R/gene_extract.r
In VilainLab/Nanotator: Next generation structural variant annotation and classification
Defines functions
reading_GTR
reading_mim2gene
clinvar_gene
gtr_gene
omim_gene
gene_extraction
gene_list_generation
Documented in
clinvar_gene
gene_extraction
gene_list_generation
gtr_gene
omim_gene
reading_GTR
reading_mim2gene
#' Extracting genes for phenotype/diseases from NCBI.
#'
#' @param method_entrez character. Input Method for terms. Choices are
#' "Single","Multiple" and "Text".
#' @param termPath character. Path and file name for textfile. FileName
#' should be in the following format "SampleID_Keywords.csv".
#' @param term character. Single or Multiple Terms.
#' @param outpath character. Path where gene lists are saved.
#' @param omim character. omim2gene file name and location.
#' @param omimID numeric. mimID for disease. Default is NULL.
#' @param clinvar character. clinvar file name and location.
#' @param gtr character. gtr file name and location.
#' @param removeClinvar logical. Deletes the Clinvar database if TRUE.
#' @param removeGTR logical. Deletes the GTR database if TRUE.
#' @param downloadClinvar logical. Downloads the Clinvar database if TRUE.
#' @param downloadGTR logical. Downloads the GTR database if TRUE.
#' @param url_gtr character. url for GTR.
#' @param thresh integer. Threshold for the number of terms sent to entrez.
#' Note if large lists are sent to ncbi, it might fail to get
#' processed. Default is 5.
#' @param returnMethod Method of returning output. Options, Text or data.frame.
#' @return Text files containg gene list and terms associated with them
#' are stored as text files.
#' @examples
#' terms="CIRRHOSIS, FAMILIAL"
#' genes <- gene_list_generation(
#' method_entrez = c("Single"),
#' term = terms,
#' returnMethod=c("dataFrame"),
#' omimID = "OMIM:118980",
#' omim = system.file("extdata", "mim2gene.txt", package="nanotatoR"),
#' clinvar = system.file("extdata", "localPDB/", package="nanotatoR"),
#' gtr = system.file("extdata", "gtrDatabase.txt", package="nanotatoR"),
#' downloadClinvar = FALSE, downloadGTR = FALSE)
#' @import stats
#' @import rentrez
#' @import utils
#' @import httr
#' @import tidyverse
#' @export
gene_list_generation<-function(method_entrez = c("Single","Multiple","Text"),
termPath, omimID = NULL,
term, outpath, thresh=5,
returnMethod=c("Text","dataFrame"), omim, clinvar, gtr,
removeClinvar = FALSE, removeGTR = FALSE,
downloadClinvar = FALSE, downloadGTR = FALSE,
url_gtr){
#setwd(path)
thresh=5
##Checking for whether the input method is commandline (Single or Multiple)
## or from Text
if (method_entrez == "Single"){
terms<-term
}
else if (method_entrez == "Multiple"){
terms<- as.character(term)
}
else if (method_entrez == "Text"){
r<-read.csv(termPath)
print(termPath)
terms<-as.character(r$Terms)
}
else{
stop("method_entrez of Input Incorrect!!!")
}
#ensembl = useMart("ensembl",dataset="hsapiens_gene_ensembl")
##Checking whether the number of terms is above the threshold
# and then calls the appropriate functions for getting gene lists.
##Note if the term number is more than 40, supply terms in batches
# of 15 or 20
if(length(terms)>=thresh){
##Diving the number of genes to be given as an
##input based on the threshold.
terms_1<-as.character(terms[1:thresh])
thresh1 <- thresh+1
terms_2<-as.character(terms[thresh1:length(terms)])
##Extracting genes from the databases
g<-gene_extraction(terms_1)
g_1<-gene_extraction(terms_2)
print(paste0("main",omim = omim))
g_o<-omim_gene(terms_1, omim =omim)
g_o_1<-omim_gene(terms_2, omim =omim)
print(paste0("main",gtr = gtr))
if(downloadGTR == FALSE){
g_g<-gtr_gene(terms_1,
gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
g_g_1<-gtr_gene(terms_2,
gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
}else{
g_g<-gtr_gene(terms_1,
gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
g_g_1<-gtr_gene(terms_2,
gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
}
#print(paste0("main",clinvar = clinvar))
if(downloadClinvar == FALSE){
g_c<-clinvar_gene(terms_1,
clinvar = clinvar,
downloadClinvar = downloadClinvar)
g_c_1<-clinvar_gene(terms_2,
clinvar = clinvar,
downloadClinvar = downloadClinvar)
}else{
print(terms_1)
g_c<-clinvar_gene(terms_1,
downloadClinvar = downloadClinvar,
omimID = omimID)
g_c_1<-clinvar_gene(terms_2,
downloadClinvar = downloadClinvar,
omimID = omimID)
}
##Collating output from all the datasets
if((typeof(g) == "character"
| typeof(g_1) == "character")
& (length(g) == 1
| length(g_1) == 1)){
if(g == "" | g_1 == ""){
g$geneName = NA
g_1$geneName = NA
g$Final_terms = NA
g_1$Final_terms = NA
} else{print("All term extraction returns data!!!")}
}else{ g <- g; g_1 <- g_1}
Genes<-c(as.character(g$geneName),as.character(g_1$geneName),
as.character(g_o$omimGenes),as.character(g_o_1$omimGenes),
as.character(g_g$gtrGenes),as.character(g_g_1$gtrGenes),
as.character(g_c$clinvarGenes),
as.character(g_c_1$clinvarGenes))
Terms<-c(as.character(g$Final_terms),as.character(g_1$Final_terms),
as.character(g_o$Final_terms_OMIM),
as.character(g_o_1$Final_terms_OMIM),
as.character(g_g$Final_terms_GTR),
as.character(g_g_1$Final_terms_GTR),
as.character(g_c$Final_terms_Clinvar),
as.character(g_c_1$Final_terms_Clinvar))
ClinicalSig <- c(as.character(rep("-",length(g$Final_terms))),
as.character(rep("-",length(g_1$Final_terms))),
as.character(rep("-",length(g_o$Final_terms_OMIM))),
as.character(rep("-",length(g_o_1$Final_terms_OMIM))),
as.character(rep("-",length(g_g$Final_terms_GTR))),
as.character(rep("-",length(g_g_1$Final_terms_GTR))),
as.character(g_c$clinicalSig),
as.character(g_c_1$clinicalSig))
##Writing genes and terms in a dataset
dat<-data.frame(Genes, Terms, ClinicalSig)
}
else{
##Extracting genes from the databases
g<-gene_extraction(terms = terms)
#print(dim(g))
g_o<-omim_gene(terms = terms, omim = omim)
if(downloadGTR == FALSE){
g_g<-gtr_gene(terms = terms,
gtr = gtr,
downloadGTR = FALSE)
}else{
g_g<-gtr_gene(terms = terms,
url_gtr = url_gtr,
downloadGTR = TRUE)
}
if(downloadClinvar == FALSE){
g_c<-clinvar_gene(terms = terms,
clinvar = clinvar,
downloadClinvar = FALSE,
omimID = omimID)
}else{
g_c<-clinvar_gene(terms = terms,
downloadClinvar = downloadClinvar)
}
if(length(g) == 1 ){
if(g == ""){
g$geneName = NA
g$Final_terms = NA
}else {g <- g}
} else{print("All term extraction returns data!!!")}
##Collating output from all the datasets
Genes<-c(as.character(g$geneName),as.character(g_g$gtrGenes),
as.character(g_o$omimGenes),as.character(g_c$clinvarGenes))
Terms<-c(as.character(g$Final_terms),
as.character(g_g$Final_terms_GTR),
as.character(g_o$Final_terms_OMIM),
as.character(g_c$Final_terms_Clinvar))
ClinicalSig <- c(as.character(rep("-",length(g$Final_terms))),
as.character(rep("-",length(g_o$Final_terms_OMIM))),
as.character(rep("-",length(g_g$Final_terms_GTR))),
as.character(g_c$clinicalSig))
##Writing genes and terms in a dataset
dat<-data.frame(Genes, Terms, ClinicalSig)
}
##We write out all the genes and terms from the
##different databases into a$description
##single dataframe
gene1<-c()
term1<-c()
csig <- c()
if(nrow(dat) > 0){
Genes <- as.character(dat$Genes)
Terms <- as.character(dat$Terms)
clinsg <- as.character(dat$ClinicalSig)
uqGenes<-as.character(unique(na.exclude(Genes)))
for(ii in 1:length(uqGenes)){
idx<-which(dat$Genes %in% uqGenes[ii])
if(length(idx)>1){
gene1<-c(gene1,as.character(uqGenes[ii]))
tt<-as.character(Terms[idx])
pa<-paste(tt,collapse=",")
paF <- paste(uqGenes[ii], "(", pa, ")", sep ="")
term1<-c(term1,as.character(paF))
nn <- as.character(clinsg[idx])
if(length(unique(nn)) == 1
& length(grep("-",unique(nn)) >= 1)){
csig <- c(csig,"-")
}else{
pa1 <-paste(nn,collapse=",")
pa1F <- paste(uqGenes[ii], "(", pa1, ")", sep ="")
csig <- c(csig,as.character(pa1F))
}
}
else{
gene1<-c(gene1,as.character(uqGenes[ii]))
paF <- paste(uqGenes[ii], "(", Terms[idx], ")", sep ="")
term1<-c(term1,as.character(paF))
nn <- as.character(clinsg[idx])
if(length(unique(nn)) == 1
& length(grep("-",unique(nn)) >= 1)){
csig <- c(csig,"-")
}else{
pa1F <- paste(uqGenes[ii], "(", csig[idx], ")", sep ="")
csig <- c(csig,as.character(pa1F))
}
}
}
}else {
Genes = c()
Terms = c()
ClinicalSignificance = c()
}
##Write the final dataframe
dat_Final<-data.frame(Genes=gene1,Terms=term1, ClinicalSignificance = csig)
#final_genes<-unique(final_genes)
##Make the filename and write the data into a text file
if(returnMethod=="Text"){
if(method_entrez == "Single"){
fileName<-paste(term,"_GeneList.txt",sep="")
}else if(method_entrez == "Multiple"){
fileName<-paste("Multiple_Terms_GeneList.txt",sep="")
}else if(method_entrez == "Text"){
if(length(strsplit(termPath, split ="/")[[1]]) >= 1){
fn1 <- strsplit(termPath, split ="/")[[1]]
len <- length(fn1)
fname <- strsplit(fn1[len],split = "_Keywords")[[1]][1]
fileName<-paste(fname,"_GeneList.txt",sep="")
}else if(length(strsplit(termPath, split ="\\\\")[[1]]) >= 1){
fn1 <- strsplit(termPath, split ="\\\\")[[1]]
len <- length(fn1)
fname <- strsplit(fn1[len],split = "_Keywords")[[1]][1]
fileName<-paste(fname,"_GeneList.txt",sep="")
}else{
fname <- strsplit(termPath,split = "_Keywords")[[1]][1]
fileName<-paste(fname,"_GeneList.txt",sep="")
}
}else{stop("Method of input not selected")}
rownames(dat_Final)<-NULL
write.table(dat_Final,file.path(outpath,fileName),
col.names = c("Genes","Terms", "ClinicalSignificance"),row.names=FALSE,sep="\t")
}
else if (returnMethod=="dataFrame"){
dat_Final<-dat_Final
}
else{
stop ("Return Method Incorrect")
}
if (removeClinvar == TRUE){
file.remove(clinvar)
}else{
print("keeping the Clinvar files")
}
if (removeGTR == TRUE){
file.remove(gtr)
}else{
print("keeping the GTR files")
}
return(dat_Final)
}
#' Extracting genes from gene database NCBI.
#'
#' @param terms Single or Multiple Terms.
#' @return Dataframe returned containing gene lists in entrezid and Gene
#' Symbols, and terms associated with it
#' @examples
#' terms="Liver cirrhosis"
#' ge <- gene_extraction(terms)
#' @import rentrez utils
#' @importFrom stats na.omit
#' @import httr
#' @importFrom AnnotationDbi mapIds
#' @import org.Hs.eg.db
#' @export
gene_extraction<-function(terms){
##Initializing values
geneName<-c()
Final_terms <-c()
#httr::set_config(httr::config(http_version = 0))
##Initialising data to be extracted from ensembl
'ensembl = useMart("ensembl",host = "www.ensembl.org",
ensemblRedirect = FALSE,dataset="hsapiens_gene_ensembl")'
##Checking for term size and extracting gene list accordingly
if (length(terms)>1){ #checking for terms greater than 1
for(ll in seq_len(length(terms))){
print(terms[ll])
##Searching Entrez with the terms
print(paste0("Gene:", ll))
patl <- paste(terms[ll])
b<-entrez_search(db="gene",term=patl,retmax=99999999)
##Extracting gene IDs, and checking if length of the gene ids
##greater than 0.
geneID<-b$ids
if(any(geneID == "") != FALSE | length(geneID) == 0){
dat1 <- ""
return(dat1)
stop("geneIDs not found!!!!")
} else if (length(mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID")) == 0){
dat1 <- ""
return(dat1)
stop("geneIDs not found!!!!")
}else{geneID <- geneID}
gg1<-data.frame()
##Checking if geneids greater than 0, if not moved to the next term
if(length(geneID)>0){
#print(paste("GeneID length:",length(geneID),sep=""))
##uid<-c();geneNam<-c();desc<-c();status<-c()
#geneNam<-c()
#for(ii in 1:length(geneID)){
# a<-entrez_summary(db="gene", id=geneID[ii])
# ##uid<-c(uid,as.character(a$uid))
# geneNam<-c(geneNam,toupper(a$name))
#
# ##desc<-c(desc,a$description)
# ##status<-c(status,a$status)
# }
##extractingthe gene Symbols associated with the gene id from
##Biomart.
gn1 <- tryCatch(
mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
gn2 = tryCatch(
mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
if (length(unique(as.character(na.omit(gn1)))) ==0)
{next}
else {gn1 = gn1}
if (length(unique(as.character(na.omit(gn2)))) ==0)
{next}
else {gn2 = gn2}
rn <- row.names(data.frame(gn1))
rn1 <- row.names(data.frame(gn2))
gene1<-data.frame(
entrezID = as.numeric(rn),
ensemblID = as.character(data.frame(gn2)[,1]),
hgnc_symbol = as.character(data.frame(gn1)[,1])
)
gn<-as.character(unique(gene1$hgnc_symbol))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
geneName<-c(geneName,as.character(gn_1))
terms_list<-as.character(rep(paste(terms[ll],"_Gene",sep=""),
length(gn_1)))
Final_terms<-c(Final_terms,terms_list)
}
else{next}
}
}
else if (length(terms)==1){
#checking for terms equal to 1
##Searching in the entrez database
patl <- paste(terms)
b<-entrez_search(db="gene", term=patl, retmax=99999999)
geneID<-b$ids
if(any(geneID == "") != FALSE | length(geneID) == 0){
dat1 <- ""
return(dat1)
stop("geneIDs not found!!!!")
} else if (length(mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID")) == 0){
dat1 <- ""
return(dat1)
stop("geneIDs not found!!!!")
}else{geneID <- geneID}
gg1<-data.frame()
##Checking if geneids greater than 0, if not moved to the next term
if(length(geneID)>0){
print(paste("GeneID length:",length(geneID),sep=""))
##uid<-c();geneNam<-c();desc<-c();status<-c()
#geneNam<-c()
#for(ii in 1:length(geneID)){
# a<-entrez_summary(db="gene", id=geneID[ii])
# ##uid<-c(uid,as.character(a$uid))
# geneNam<-c(geneNam,toupper(a$name))
#
# ##desc<-c(desc,a$description)
# ##status<-c(status,a$status)
# }
##Extracting gene symbols using BiMart
gn1 <- mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID")
gn2 <- mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID")
rn <- row.names(data.frame(gn2))
rn1 <- row.names(data.frame(gn2))
gene1<-data.frame(
entrezID = as.numeric(rn),
ensemblID = as.character(data.frame(gn2)[,1]),
hgnc_symbol = as.character(data.frame(gn1)[,1])
)
gn<-as.character(unique(gene1$hgnc_symbol))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
geneName<-c(geneName,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,"_Gene",sep=""),
length(gn_1)))
Final_terms<-c(Final_terms,terms_list)
}
else{
print ("No genes for term !!")
}
}
else{
stop("Term length is zero")
}
##Data written to the dataframe and returned
dat1<-data.frame(geneName,Final_terms)
#Finaldata<-c()
#print(paste("GeneName length:",length(geneName),sep=""))
return(dat1)
}
#' Extracting genes from OMIM database NCBI.
#'
#' @param terms character Single or Multiple Terms.
#' @param omim character omim database location.
#' @return Dataframe returned containing gene lists in entrezid and Gene
#' Symbols, and terms associated with it
#' @examples
#' terms="Liver cirrhosis"
#' omim = system.file("extdata", "mim2gene.txt", package="nanotatoR")
#' ge <- omim_gene(terms = terms, omim = omim)
#' @import rentrez
#' @import utils
#' @importFrom AnnotationDbi mapIds
#' @import org.Hs.eg.db
#' @importFrom stats na.omit
#' @import httr
#' @export
omim_gene<-function(terms, omim){
##Initialising variables
omimGenes<-c()
Final_terms_OMIM<-c()
#httr::set_config(httr::config(http_version = 0))
##Initialising data to be extracted from ensembl
####Checking for term size and extracting gene list accordingly
print(paste0("omim_gene",omim))
datOmim <- reading_mim2gene(omim = omim)
if (length(terms)>1){
##Length of the terms input greater than 1.
for(ll in seq_len(length(terms))){
print(paste0("OMIM:", ll))
## Searching the OMIM database for terms and Gene IDs extracted
#patl <- paste(terms[ll],"[DIS]")
'c<-entrez_search(db="omim",term=paste(terms[ll],"[WORD]",sep=""),
retmax=99999999)'
d<-entrez_search(db="omim",term=paste(terms[ll],"[DIS]",sep=""),
retmax=99999999)
geneName <- c()
#omimgeneID_word<-c$ids
omimgeneID_dis<-d$ids
final_omim<-unique(as.character(omimgeneID_dis))
##Checking if geneids greater than 0, if not moved to the next term
if(length(final_omim)>0){
#omimgen<-c()
#for (kk in 1:length(final_omim)){
#k<-entrez_summary(db="omim", id=final_omim[kk])
#gene<-as.character(k$title)
#st<-strsplit(gene,split=";")
#omimgen<-c(omimgen,as.character(toupper(st[[1]][2])))
#}
###Extracting OMIM data
omimid <- datOmim[,1]
geneOmim <- datOmim[,2]
pas <- paste0("^",omimid,"$")
pasq <- paste0("^",final_omim,"$")
geneID <- c()
for(ii in 1:length(pasq)){
g1 <- grep(pasq[ii], pas, fixed = TRUE)
geneID <- c(geneID, as.character(geneOmim[g1]))
}
geneID <- na.omit(as.character(geneID))
##Get the Human gene symbols for the extracted Gene IDs
gn1 <- tryCatch(
mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
gn2 = tryCatch(
mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
if (length(unique(as.character(na.omit(gn1)))) ==0)
{next}
else {gn1 = gn1}
if (length(unique(as.character(na.omit(gn2)))) ==0)
{next}
else {gn2 = gn2}
'gn1 <- mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID")
gn2 <- mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID")'
rn <- row.names(data.frame(gn1))
rn1 <- row.names(data.frame(gn2))
gene1<-data.frame(
entrezID = as.numeric(rn),
ensemblID = as.character(data.frame(gn2)[,1]),
hgnc_symbol = as.character(data.frame(gn1)[,1])
)
gn<-as.character(unique(gene1$hgnc_symbol))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
omimGenes<-c(omimGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms[ll],"_OMIM",sep=""),
length(gn_1)))
Final_terms_OMIM<-c(Final_terms_OMIM,terms_list)
}
else{
next
}
}
}
else if (length(terms)==1){
##Extracting data from OMIM
'c<-entrez_search(db="omim",term=paste(terms,"[WORD]",sep=""),
retmax=99999999)'
d <- entrez_search(db="omim",term=paste(terms,"[DIS]",sep=""),
retmax=99999999)
#omimgeneID_word<-c$ids
omimgeneID_dis<-d$ids
final_omim<-unique(c(as.character(omimgeneID_dis)))
##Checking if geneids greater than 0, if not move to the next term
if(length(final_omim)>0){
#omimgen<-c()
#for (kk in 1:length(final_omim)){
#k<-entrez_summary(db="omim", id=final_omim[kk])
#gene<-as.character(k$title)
#st<-strsplit(gene,split=";")
#omimgen<-c(omimgen,as.character(toupper(st[[1]][2])))
#}
##Extract Gene Symols throug Bionano
omimid <- datOmim[,1]
geneOmim <- datOmim[,2]
pas <- paste0("^",omimid,"$")
pasq <- paste0("^",final_omim,"$")
geneID <- c()
for(ii in 1:length(pasq)){
g1 <- grep(pasq[ii], pas, fixed = TRUE)
geneID <- c(geneID, as.character(geneOmim[g1]))
}
geneID <- na.omit(as.character(geneID))
gn1 <- tryCatch(
mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
gn2 = tryCatch(
mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
#if (length(unique(as.character(na.omit(gn1)))) ==0) {next} else {gn1 = gn1}
#if (length(unique(as.character(na.omit(gn2)))) ==0) {next} else {gn2 = gn2}
rn <- row.names(data.frame(gn1))
rn1 <- row.names(data.frame(gn2))
gene1<-data.frame(
entrezID = as.numeric(rn),
ensemblID = as.character(data.frame(gn2)[,1]),
hgnc_symbol = as.character(data.frame(gn1)[,1])
)
gn<-as.character(unique(gene1$hgnc_symbol))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
omimGenes<-c(omimGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,"_OMIM",sep=""),
length(gn_1)))
Final_terms_OMIM<-c(Final_terms_OMIM,terms_list)
}
else{
print ("No genes for term !!")
}
}
else{
stop("Term length is zero")
}
##Writing data into data frame and returning
dat2<-data.frame(omimGenes,Final_terms_OMIM)
print(paste("OMIM GeneName length:",length(omimGenes),sep=""))
return(dat2)
}
#' Extracting genes from gtr database NCBI.
#'
#' @param terms Single or Multiple Terms.
#' @param gtr character gtr database location.
#' @param downloadGTR boolean If TRUE, download the gtr database.
#' Default FALSE.
#' @param url_gtr character url for gtr database.
#' @return Dataframe returned containing gene lists in entrezid and Gene
#' Symbols, and terms associated with it
#' @examples
#' terms="Liver cirrhosis"
#' gtr = system.file("extdata", "gtrDatabase.txt", package="nanotatoR")
#' ge <- gtr_gene(terms = terms,gtr = gtr, downloadGTR = FALSE)
#' @importFrom stats na.omit
#' @importFrom AnnotationDbi mapIds
#' @import org.Hs.eg.db
#' @export
gtr_gene<-function(terms, gtr, url_gtr, downloadGTR = TRUE){
##Initialising variables
print("###GTR data Analysis###")
gtrGenes<-c()
Final_terms_GTR<-c()
print(downloadGTR)
##Initialising data to be extracted from ensembl
#httr::set_config(httr::config(http_version = 0))
datGtr <- reading_GTR(gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
####Checking for term size and extracting gene list accordingly
if (length(terms)>1){
for(ll in seq_len(length(terms))){##if term length greater than 1
##Extracting data from GTR database
print(paste0("GTR:", ll))
'e<-entrez_search(db="gtr",term=terms[ll],retmax=99999999)
gtrgeneID<-e$ids'
g1 <- grep(as.character(terms[ll]),
as.character(datGtr$DiseaseName), ignore.case = TRUE)
geneID <- as.character(unique(na.omit(datGtr$GeneID[g1])))
geneID <- gsub("N/A", NA, geneID)
##Checking if gene ID extracted is greater than 0
if(length(geneID) > length(is.na(geneID))){
gn<-as.character(unique(geneID))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
gtrGenes<-c(gtrGenes,as.character(gn_1))
terms_list<-as.character(
rep(paste(terms[ll],"_GTR",sep=""),
length(gn_1)))
Final_terms_GTR<-c(Final_terms_GTR,terms_list)
}
else{
print ("No genes for term !!")
next
}
}
}
else if (length(terms)==1){##For single terms
##Extracting data from GTR
g1 <- grep(as.character(terms), as.character(datGtr$DiseaseName),
ignore.case = TRUE)
geneID <- as.character(unique(na.omit(datGtr$GeneID[g1])))
geneID <- gsub("N/A", NA, geneID)
##Checking if gene ID extracted is greater than 0
if(length(geneID) > length(is.na(geneID))){
gn<-as.character(unique(geneID))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
gtrGenes<-c(gtrGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,"_GTR",sep=""),
length(gn_1)))
Final_terms_GTR<-c(Final_terms_GTR,terms_list)
}
else{
print ("No genes for term !!")
}
}
else {##If term length is zero
stop("Term length is zero")
}
##Writing data into data frame and returning
dat3<-data.frame(gtrGenes,Final_terms_GTR)
print(paste("gtrGenes GeneName length:",length(gtrGenes),sep=""))
return(dat3)
}
#' Extracting genes from clinvar database NCBI.
#'
#' @param terms Single or Multiple Terms.
#' @param clinvar character clinvar database location.
#' @param downloadClinvar boolean If TRUE, download the gtr database.
#' Default FALSE.
#' @param omimID numeric Omim Id for disease.
#' @return Dataframe returned containing gene lists in entrezid and Gene
#' Symbols, and terms associated with it
#' @examples
#' terms="Liver cirrhosis"
#' clinvar = system.file("extdata", "localPDB/", package="nanotatoR")
#' downloadClinvar = FALSE
#' ge <- clinvar_gene(terms = terms, clinvar = clinvar,
#' downloadClinvar = downloadClinvar,
#' omimID = "OMIM:118980")
#' @importFrom stats na.omit
clinvar_gene<-function(terms,
clinvar,
downloadClinvar,
omimID = NULL){
print("###Clinvar data Analysis###")
##Initializing variables
clinvarGenes <- c()
Final_terms_Clinvar = c()
clinicalSig = c()
#clinsig = clinsig
#print(downloadClinvar)
##Initialising the database
'httr::set_config(httr::config(http_version = 0))
datclinvar <- reading_clinvar(clinvar = clinvar,
downloadClinvar = downloadClinvar, url_clinvar = url_clinvar)'
if (length(terms)>1){
for(ll in seq_len(length(terms))){
print(paste0("Clinvar:", ll))
'e<-entrez_search(db="gtr",term=terms[ll],retmax=99999999)
gtrgeneID<-e$ids'
if(downloadClinvar == TRUE){
clinvar.phenotype = extract_clinvar_mod(
keyword = terms[ll])
}else{
clinvar.phenotype = extract_clinvar_mod(keyword= terms[ll],
localPDB.path = clinvar,
HPO.disease = omimID)
}
'g1 <- grep(as.character(terms[ll]), as.character(datclinvar$DiseaseName),
ignore.case = TRUE)'
dis2genes <- clinvar.phenotype$gene2dis
disterms <- clinvar.phenotype$gene2dis$DiseaseName
pterms <- terms[ll]
'pterms1 <- paste0(";", terms[ll], ";")
pterms2 <- paste0(";", terms[ll])
pterms3 <- paste0(terms[ll], ";")'
g1 <- grep(pterms, as.character(disterms), ignore.case=TRUE)
'g2 <- grep(pterms1, as.character(disterms), ignore.case=TRUE)
g3 <- grep(pterms2, as.character(disterms), ignore.case=TRUE)
g4 <- grep(pterms3, as.character(disterms), ignore.case=TRUE) '
geneID <- unique(as.numeric(dis2genes$X.GeneID[g1]))
omim <- unique(as.numeric(dis2genes$DiseaseMIM[g1]))
varn <- clinvar.phenotype$variants
st1 <- strsplit(as.character(varn$PhenotypeIDS), split = ",")
varn$omimID <- sapply(st1, function(x) strsplit(x[2],split="OMIM:")[[1]][2])
print(geneID)
genes <- c()
clinsigfig <- c()
termsclinvar <- c()
if (length(geneID) > 0){
for(ii in 1:length(geneID)){
da1 <- varn[which(varn$GeneID == geneID[ii] &
(varn$ClinicalSignificance == "Benign"
| varn$ClinicalSignificance == "Likely Benign"
| varn$ClinicalSignificance == "Benign/Likely benign"
| varn$ClinicalSignificance == "Uncertain significance"
| varn$ClinicalSignificance == "Pathogenic/Likely pathogenic"
| varn$ClinicalSignificance == "Pathogenic"
| varn$ClinicalSignificance == "Likely pathogenic")),]
if(nrow(da1)>1){
if(length(unique(da1$GeneSymbol)) > 1){
ungenes <- as.character(unique(da1$GeneSymbol))
for(ff in 1:length(ungenes)){
if(sapply(gregexpr("\\S+", ungenes[ff]), length) == 1){
genes <- c(genes, as.character(ungenes[ff]))
}else{
genes <- c(genes, ".")
}
}
}else{
ungenes <- as.character(unique(da1$GeneSymbol))
if(sapply(gregexpr("\\S+", ungenes), length) == 1){
genes <- c(genes, as.character(ungenes))
}else{
genes <- c(genes, ".")
}
}
print(paste(ii, ":", genes))
g1 <- grep("Pathogenic/Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
g2 <- grep("Pathogenic", da1$ClinicalSignificance,
ignore.case = TRUE)
g3 <- grep("Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
if((length(g1) >= 1
& length(g2) >= 1
& length(g3) >= 1)
|(length(g1) >= 1
| length(g2) >= 1
| length(g3) >= 1)){
cs <- "Pathogenic/Likely pathogenic"
}else{cs <- as.character("-")}
if(length(cs) > 1){
csp <- paste(cs, collapse = ",")
}else {csp <- cs}
clinsigfig <- c(clinsigfig, csp)
}else{ genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")
}
}
}else if (length(geneID) == 1){
da1 <- varn[which(varn$GeneID == geneID &
(varn$ClinicalSignificance == "Benign"
| varn$ClinicalSignificance == "Likely Benign"
| varn$ClinicalSignificance == "Benign/Likely benign"
| varn$ClinicalSignificance == "Uncertain significance"
| varn$ClinicalSignificance == "Pathogenic/Likely pathogenic"
| varn$ClinicalSignificance == "Pathogenic"
| varn$ClinicalSignificance == "Likely pathogenic")),]
if(nrow(da1) > 0){
#genes <- c(genes, as.character(unique(da1$GeneSymbol)))
g1 <- grep("Pathogenic/Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
g2 <- grep("Pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
g3 <- grep("Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
if((length(g1) >= 1
& length(g2) >= 1
& length(g3) >= 1)
|(length(g1) >= 1
| length(g2) >= 1
| length(g3) >= 1)){
cs <- "Pathogenic/Likely pathogenic"
}else{cs <- as.character("-")}
if(length(unique(da1$GeneSymbol)) > 1){
ungenes <- as.character(unique(da1$GeneSymbol))
for(ff in 1:length(ungenes)){
if(sapply(gregexpr("\\S+", ungenes[ff]), length) == 1){
genes <- c(genes, as.character(ungenes[ff]))
}else{
genes <- c(genes, ".")
}
}
}else{
ungenes <- as.character(unique(da1$GeneSymbol))
if(sapply(gregexpr("\\S+", ungenes), length) == 1){
genes <- c(genes, as.character(ungenes))
}else{
genes <- c(genes, ".")
}
}
#cs <- as.character(unique(da1$ClinicalSignificance))
if(length(cs) > 1){
csp <- paste(unique(cs), collapse = ",")
}
else {csp <- unique(cs)}
clinsigfig <- c(clinsigfig,csp)
}else{genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")}
}else{
genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")
}
##Checking if gene ID extracted is greater than 0
if(length(genes) > 0){
if((length(genes) > 1)){
gn<-as.character(unique(genes))
gn_1_temp <- gn[gn != "."]
gn_1 <- as.character(na.omit(gn_1_temp))
clinvarGenes<-c(clinvarGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms[ll],
"_ClinVar",sep=""), length(gn_1)))
Final_terms_Clinvar <- c(Final_terms_Clinvar,terms_list)
clinsigfig<-as.character(rep("Pathogenic/Likely pathogenic", length(gn_1)))
clinicalSig <- c(clinicalSig, as.character(clinsigfig))
}else if ((length(genes) == 1 & length(grep("\\.", genes)) == 1)){
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
} else if (length(genes) == 1){
gn<-as.character(unique(genes))
gn_1_temp <- gn[gn != "."]
gn_1 <- as.character(na.omit(gn_1_temp))
clinvarGenes<-c(clinvarGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms[ll],
"_ClinVar",sep=""), length(gn_1)))
Final_terms_Clinvar <- c(Final_terms_Clinvar,terms_list)
clinsigfig<-as.character(rep("Pathogenic/Likely pathogenic", length(gn_1)))
clinicalSig <- c(clinicalSig, as.character(clinsigfig))
}
else{
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
}else{
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
print(paste("clinicalSig:",length(clinicalSig)))
print(paste("genes:",length(clinvarGenes)))
}
}
else if (length(terms)==1){##Checking if term is single
##Extracting data from Clinvar
genes <- c()
clinsigfig <- c()
#print(clinsig)
if(downloadClinvar == TRUE){
clinvar.phenotype = extract_clinvar_mod(keyword= terms)
}else{
clinvar.phenotype = extract_clinvar_mod(keyword= terms,
localPDB.path = clinvar, HPO.disease = omimID)
}
'g1 <- grep(as.character(terms[ll]), as.character(datclinvar$DiseaseName),
ignore.case = TRUE)'
dis2genes <- clinvar.phenotype$gene2dis
disterms <- clinvar.phenotype$gene2dis$DiseaseName
pterms <- terms
'pterms1 <- paste0(";", terms[ll], ";")
pterms2 <- paste0(";", terms[ll])
pterms3 <- paste0(terms[ll], ";")'
g1 <- grep(pterms, as.character(disterms), ignore.case=TRUE)
'g2 <- grep(pterms1, as.character(disterms), ignore.case=TRUE)
g3 <- grep(pterms2, as.character(disterms), ignore.case=TRUE)
g4 <- grep(pterms3, as.character(disterms), ignore.case=TRUE) '
geneID <- unique(as.numeric(dis2genes$X.GeneID[g1]))
omim <- unique(as.numeric(dis2genes$DiseaseMIM[g1]))
varn <- clinvar.phenotype$variants
st1 <- strsplit(as.character(varn$PhenotypeIDS), split = ",")
varn$omimID <- sapply(st1, function(x) strsplit(x[2],split="OMIM:")[[1]][2])
if (length(geneID) > 1){
for(ii in 1:length(geneID)){
da1 <- varn[which(varn$GeneID == geneID[ii] &
(varn$ClinicalSignificance == "Benign"
| varn$ClinicalSignificance == "Likely Benign"
| varn$ClinicalSignificance == "Benign/Likely benign"
| varn$ClinicalSignificance == "Uncertain significance"
| varn$ClinicalSignificance == "Pathogenic/Likely pathogenic"
| varn$ClinicalSignificance == "Pathogenic"
| varn$ClinicalSignificance == "Likely pathogenic")),]
if(nrow(da1)>0){
if(length(unique(da1$GeneSymbol)) > 1){
ungenes <- as.character(unique(da1$GeneSymbol))
for(ff in 1:length(ungenes)){
if(sapply(gregexpr("\\S+", ungenes[ff]), length) == 1){
genes <- c(genes, as.character(ungenes[ff]))
}else{
genes <- c(genes, ".")
}
}
}else{
ungenes <- as.character(unique(da1$GeneSymbol))
if(sapply(gregexpr("\\S+", ungenes), length) == 1){
genes <- c(genes, as.character(ungenes))
}else{
genes <- c(genes, ".")
}
}
g1 <- grep("Pathogenic/Likely pathogenic", da1$ClinicalSignificance, ignore.case = TRUE)
g2 <- grep("Pathogenic", da1$ClinicalSignificance, ignore.case = TRUE)
g3 <- grep("Likely pathogenic", da1$ClinicalSignificance, ignore.case = TRUE)
if(((length(g1) >= 1 & length(g2) >= 1 & length(g3) >= 1)
|(length(g1) >= 1 | length(g2) >= 1 | length(g3) >= 1))){
cs <- "Pathogenic/Likely pathogenic"
}else{cs <- as.character("-")}
if(length(cs) > 1){
csp <- paste(cs, collapse = ",")
}
else {csp <- cs}
clinsigfig <- c(clinsigfig,csp)
}else { genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")}
}
}else if (length(geneID) == 1){
da1 <- varn[which(varn$GeneID == geneID &
(varn$ClinicalSignificance == "Benign"
| varn$ClinicalSignificance == "Likely Benign"
| varn$ClinicalSignificance == "Benign/Likely benign"
| varn$ClinicalSignificance == "Uncertain significance"
| varn$ClinicalSignificance == "Pathogenic/Likely pathogenic"
| varn$ClinicalSignificance == "Pathogenic"
| varn$ClinicalSignificance == "Likely pathogenic")),]
if(nrow(da1)>0){
if(length(unique(da1$GeneSymbol)) > 1){
ungenes <- as.character(unique(da1$GeneSymbol))
for(ff in 1:length(ungenes)){
if(sapply(gregexpr("\\S+", ungenes[ff]), length) == 1){
genes <- c(genes, as.character(ungenes[ff]))
}else{
genes <- c(genes, ".")
}
}
}else{
ungenes <- as.character(unique(da1$GeneSymbol))
if(sapply(gregexpr("\\S+", ungenes), length) == 1){
genes <- c(genes, as.character(ungenes))
}else{
genes <- c(genes, ".")
}
}
g1 <- grep("Pathogenic/Likely pathogenic", da1$ClinicalSignificance, ignore.case = TRUE)
g2 <- grep("Pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
g3 <- grep("Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
if(((length(g1) >= 1
& length(g2) >= 1
& length(g3) >= 1)
|(length(g1) >= 1
| length(g2) >= 1
| length(g3) >= 1))){
cs <- "Pathogenic/Likely pathogenic"
}else{cs <- as.character("-")}
if(length(cs) > 1){
csp <- paste(cs, collapse = ",")
}
else {csp <- cs}
clinsigfig <- c(clinsigfig,csp)
}else{genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")}
}else{
genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")
}
##Checking if gene ID extracted is greater than 0
if(length(genes) > 0){
if((length(genes) > 1)){
gn<-as.character(unique(genes))
gn_1_temp <- gn[gn != "."]
gn_1 <- as.character(na.omit(gn_1_temp))
clinvarGenes<-c(clinvarGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,
"_ClinVar",sep=""), length(gn_1)))
Final_terms_Clinvar <- c(Final_terms_Clinvar,terms_list)
clinsigfig<-as.character(rep("Pathogenic/Likely pathogenic", length(gn_1)))
clinicalSig <- c(clinicalSig, as.character(clinsigfig))
}else if ((length(genes) == 1 & length(grep("\\.", genes)) == 1)){
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
} else if (length(genes) == 1){
gn<-as.character(unique(genes))
gn_1_temp <- gn[gn != "."]
gn_1 <- as.character(na.omit(gn_1_temp))
clinvarGenes<-c(clinvarGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,
"_ClinVar",sep=""), length(gn_1)))
Final_terms_Clinvar <- c(Final_terms_Clinvar,terms_list)
clinsigfig<-as.character(rep("Pathogenic/Likely pathogenic", length(gn_1)))
clinicalSig <- c(clinicalSig, as.character(clinsigfig))
}
else{
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
}else{
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
}else{
print ("No terms present !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
##Writing gene and terms into dataframe and returning
dat4 <- data.frame(clinvarGenes,Final_terms_Clinvar, clinicalSig)
#print(paste("clinvarGenes GeneName length:",length(clinvarGenes),sep=""))
return(dat4)
}
#' Reading and parsing OMIM database.
#'
#' @param omim character omim database location.
#' @return Dataframe returned containing Omim ID and gene IDs.
#' @examples
#' omim = system.file("extdata", "mim2gene.txt", package="nanotatoR")
#' a <- reading_mim2gene(omim = omim)
#' @importFrom stats na.omit
#' @import utils
#' @export
reading_mim2gene <- function(omim){
omim = omim
print(omim)
print(paste0("omim_gene",omim))
con <- file(omim, "r")
r10 <- readLines(con, n = -1)
close(con)
# datfinal<-data.frame()
# datfinal<-data.frame()
g1 <- grep("MIM Number", r10)
g2 <- grep("Entrez Gene ID \\(NCBI\\)", r10)
print(g1)
print(g2)
'gg1 <- grep("# BSPQI Sample", r10)
stt <- strsplit(r10[gg1], split = ":")
fname_temp <- stt[[1]][2]'
#print (paste0("SampleName:", fname))
if (g1 == g2) {
dat <- gsub("#", "", as.character(r10))
# dat<-gsub('\t',' ',r10)
dat4 <- textConnection(dat[g1:length(dat)])
r1 <- read.table(dat4, sep = "\t", header = TRUE)
close(dat4)
} else {
stop("column names doesnot Match")
}
dat <- data.frame(OMIMID = as.character(r1[,1]), GeneID = as.character(r1[,3]))
return(dat)
}
#' Reading and parsing gtr database.
#'
#' @param gtr character gtr database location.
#' @param downloadGTR logical if true, downloads gtr database, .
#' and store data in the gtr location, else reads dataset from
#' gtr location.
#' @param url_gtr character url for gtr database.
#' @return Dataframe representation of gtr database.
#' @examples
#' a <- reading_GTR(
#' gtr = system.file("extdata", "gtrDatabase.txt", package="nanotatoR"),
#' downloadGTR = FALSE)
#' @importFrom stats na.omit
#' @import utils
#' @export
reading_GTR <- function(gtr, downloadGTR,
url_gtr = "ftp://ftp.ncbi.nlm.nih.gov/pub/GTR/data/test_condition_gene.txt"){
downloadGTR = downloadGTR
if(downloadGTR == TRUE){
download.file(url = url_gtr,
destfile = gtr)
tab <- read.table(gtr, sep="\t", header=TRUE, comment.char="",
na.strings=".", stringsAsFactors=FALSE,
quote="", fill=FALSE)
dat <- data.frame(GeneID = as.character(tab$gene_symbol),
DiseaseName = as.character(tab$object_name))
}
else{
tab <- read.table(gtr, sep="\t", header=TRUE, comment.char="",
na.strings=".", stringsAsFactors=FALSE,
quote="", fill=FALSE)
dat <- data.frame(GeneID = as.character(tab$gene_symbol),
DiseaseName = as.character(tab$object_name))
}
return(dat)
}
VilainLab/Nanotator documentation built on Aug. 2, 2024, 8:45 p.m.
R Package Documentation
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Note that we can't provide technical support on individual packages. You should contact the package authors for that.
Defines functions reading_GTR reading_mim2gene clinvar_gene gtr_gene omim_gene gene_extraction gene_list_generation
Documented in clinvar_gene gene_extraction gene_list_generation gtr_gene omim_gene reading_GTR reading_mim2gene
#' Extracting genes for phenotype/diseases from NCBI.
#'
#' @param method_entrez character. Input Method for terms. Choices are
#' "Single","Multiple" and "Text".
#' @param termPath character. Path and file name for textfile. FileName
#' should be in the following format "SampleID_Keywords.csv".
#' @param term character. Single or Multiple Terms.
#' @param outpath character. Path where gene lists are saved.
#' @param omim character. omim2gene file name and location.
#' @param omimID numeric. mimID for disease. Default is NULL.
#' @param clinvar character. clinvar file name and location.
#' @param gtr character. gtr file name and location.
#' @param removeClinvar logical. Deletes the Clinvar database if TRUE.
#' @param removeGTR logical. Deletes the GTR database if TRUE.
#' @param downloadClinvar logical. Downloads the Clinvar database if TRUE.
#' @param downloadGTR logical. Downloads the GTR database if TRUE.
#' @param url_gtr character. url for GTR.
#' @param thresh integer. Threshold for the number of terms sent to entrez.
#' Note if large lists are sent to ncbi, it might fail to get
#' processed. Default is 5.
#' @param returnMethod Method of returning output. Options, Text or data.frame.
#' @return Text files containg gene list and terms associated with them
#' are stored as text files.
#' @examples
#' terms="CIRRHOSIS, FAMILIAL"
#' genes <- gene_list_generation(
#' method_entrez = c("Single"),
#' term = terms,
#' returnMethod=c("dataFrame"),
#' omimID = "OMIM:118980",
#' omim = system.file("extdata", "mim2gene.txt", package="nanotatoR"),
#' clinvar = system.file("extdata", "localPDB/", package="nanotatoR"),
#' gtr = system.file("extdata", "gtrDatabase.txt", package="nanotatoR"),
#' downloadClinvar = FALSE, downloadGTR = FALSE)
#' @import stats
#' @import rentrez
#' @import utils
#' @import httr
#' @import tidyverse
#' @export
gene_list_generation<-function(method_entrez = c("Single","Multiple","Text"),
termPath, omimID = NULL,
term, outpath, thresh=5,
returnMethod=c("Text","dataFrame"), omim, clinvar, gtr,
removeClinvar = FALSE, removeGTR = FALSE,
downloadClinvar = FALSE, downloadGTR = FALSE,
url_gtr){
#setwd(path)
thresh=5
##Checking for whether the input method is commandline (Single or Multiple)
## or from Text
if (method_entrez == "Single"){
terms<-term
}
else if (method_entrez == "Multiple"){
terms<- as.character(term)
}
else if (method_entrez == "Text"){
r<-read.csv(termPath)
print(termPath)
terms<-as.character(r$Terms)
}
else{
stop("method_entrez of Input Incorrect!!!")
}
#ensembl = useMart("ensembl",dataset="hsapiens_gene_ensembl")
##Checking whether the number of terms is above the threshold
# and then calls the appropriate functions for getting gene lists.
##Note if the term number is more than 40, supply terms in batches
# of 15 or 20
if(length(terms)>=thresh){
##Diving the number of genes to be given as an
##input based on the threshold.
terms_1<-as.character(terms[1:thresh])
thresh1 <- thresh+1
terms_2<-as.character(terms[thresh1:length(terms)])
##Extracting genes from the databases
g<-gene_extraction(terms_1)
g_1<-gene_extraction(terms_2)
print(paste0("main",omim = omim))
g_o<-omim_gene(terms_1, omim =omim)
g_o_1<-omim_gene(terms_2, omim =omim)
print(paste0("main",gtr = gtr))
if(downloadGTR == FALSE){
g_g<-gtr_gene(terms_1,
gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
g_g_1<-gtr_gene(terms_2,
gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
}else{
g_g<-gtr_gene(terms_1,
gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
g_g_1<-gtr_gene(terms_2,
gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
}
#print(paste0("main",clinvar = clinvar))
if(downloadClinvar == FALSE){
g_c<-clinvar_gene(terms_1,
clinvar = clinvar,
downloadClinvar = downloadClinvar)
g_c_1<-clinvar_gene(terms_2,
clinvar = clinvar,
downloadClinvar = downloadClinvar)
}else{
print(terms_1)
g_c<-clinvar_gene(terms_1,
downloadClinvar = downloadClinvar,
omimID = omimID)
g_c_1<-clinvar_gene(terms_2,
downloadClinvar = downloadClinvar,
omimID = omimID)
}
##Collating output from all the datasets
if((typeof(g) == "character"
| typeof(g_1) == "character")
& (length(g) == 1
| length(g_1) == 1)){
if(g == "" | g_1 == ""){
g$geneName = NA
g_1$geneName = NA
g$Final_terms = NA
g_1$Final_terms = NA
} else{print("All term extraction returns data!!!")}
}else{ g <- g; g_1 <- g_1}
Genes<-c(as.character(g$geneName),as.character(g_1$geneName),
as.character(g_o$omimGenes),as.character(g_o_1$omimGenes),
as.character(g_g$gtrGenes),as.character(g_g_1$gtrGenes),
as.character(g_c$clinvarGenes),
as.character(g_c_1$clinvarGenes))
Terms<-c(as.character(g$Final_terms),as.character(g_1$Final_terms),
as.character(g_o$Final_terms_OMIM),
as.character(g_o_1$Final_terms_OMIM),
as.character(g_g$Final_terms_GTR),
as.character(g_g_1$Final_terms_GTR),
as.character(g_c$Final_terms_Clinvar),
as.character(g_c_1$Final_terms_Clinvar))
ClinicalSig <- c(as.character(rep("-",length(g$Final_terms))),
as.character(rep("-",length(g_1$Final_terms))),
as.character(rep("-",length(g_o$Final_terms_OMIM))),
as.character(rep("-",length(g_o_1$Final_terms_OMIM))),
as.character(rep("-",length(g_g$Final_terms_GTR))),
as.character(rep("-",length(g_g_1$Final_terms_GTR))),
as.character(g_c$clinicalSig),
as.character(g_c_1$clinicalSig))
##Writing genes and terms in a dataset
dat<-data.frame(Genes, Terms, ClinicalSig)
}
else{
##Extracting genes from the databases
g<-gene_extraction(terms = terms)
#print(dim(g))
g_o<-omim_gene(terms = terms, omim = omim)
if(downloadGTR == FALSE){
g_g<-gtr_gene(terms = terms,
gtr = gtr,
downloadGTR = FALSE)
}else{
g_g<-gtr_gene(terms = terms,
url_gtr = url_gtr,
downloadGTR = TRUE)
}
if(downloadClinvar == FALSE){
g_c<-clinvar_gene(terms = terms,
clinvar = clinvar,
downloadClinvar = FALSE,
omimID = omimID)
}else{
g_c<-clinvar_gene(terms = terms,
downloadClinvar = downloadClinvar)
}
if(length(g) == 1 ){
if(g == ""){
g$geneName = NA
g$Final_terms = NA
}else {g <- g}
} else{print("All term extraction returns data!!!")}
##Collating output from all the datasets
Genes<-c(as.character(g$geneName),as.character(g_g$gtrGenes),
as.character(g_o$omimGenes),as.character(g_c$clinvarGenes))
Terms<-c(as.character(g$Final_terms),
as.character(g_g$Final_terms_GTR),
as.character(g_o$Final_terms_OMIM),
as.character(g_c$Final_terms_Clinvar))
ClinicalSig <- c(as.character(rep("-",length(g$Final_terms))),
as.character(rep("-",length(g_o$Final_terms_OMIM))),
as.character(rep("-",length(g_g$Final_terms_GTR))),
as.character(g_c$clinicalSig))
##Writing genes and terms in a dataset
dat<-data.frame(Genes, Terms, ClinicalSig)
}
##We write out all the genes and terms from the
##different databases into a$description
##single dataframe
gene1<-c()
term1<-c()
csig <- c()
if(nrow(dat) > 0){
Genes <- as.character(dat$Genes)
Terms <- as.character(dat$Terms)
clinsg <- as.character(dat$ClinicalSig)
uqGenes<-as.character(unique(na.exclude(Genes)))
for(ii in 1:length(uqGenes)){
idx<-which(dat$Genes %in% uqGenes[ii])
if(length(idx)>1){
gene1<-c(gene1,as.character(uqGenes[ii]))
tt<-as.character(Terms[idx])
pa<-paste(tt,collapse=",")
paF <- paste(uqGenes[ii], "(", pa, ")", sep ="")
term1<-c(term1,as.character(paF))
nn <- as.character(clinsg[idx])
if(length(unique(nn)) == 1
& length(grep("-",unique(nn)) >= 1)){
csig <- c(csig,"-")
}else{
pa1 <-paste(nn,collapse=",")
pa1F <- paste(uqGenes[ii], "(", pa1, ")", sep ="")
csig <- c(csig,as.character(pa1F))
}
}
else{
gene1<-c(gene1,as.character(uqGenes[ii]))
paF <- paste(uqGenes[ii], "(", Terms[idx], ")", sep ="")
term1<-c(term1,as.character(paF))
nn <- as.character(clinsg[idx])
if(length(unique(nn)) == 1
& length(grep("-",unique(nn)) >= 1)){
csig <- c(csig,"-")
}else{
pa1F <- paste(uqGenes[ii], "(", csig[idx], ")", sep ="")
csig <- c(csig,as.character(pa1F))
}
}
}
}else {
Genes = c()
Terms = c()
ClinicalSignificance = c()
}
##Write the final dataframe
dat_Final<-data.frame(Genes=gene1,Terms=term1, ClinicalSignificance = csig)
#final_genes<-unique(final_genes)
##Make the filename and write the data into a text file
if(returnMethod=="Text"){
if(method_entrez == "Single"){
fileName<-paste(term,"_GeneList.txt",sep="")
}else if(method_entrez == "Multiple"){
fileName<-paste("Multiple_Terms_GeneList.txt",sep="")
}else if(method_entrez == "Text"){
if(length(strsplit(termPath, split ="/")[[1]]) >= 1){
fn1 <- strsplit(termPath, split ="/")[[1]]
len <- length(fn1)
fname <- strsplit(fn1[len],split = "_Keywords")[[1]][1]
fileName<-paste(fname,"_GeneList.txt",sep="")
}else if(length(strsplit(termPath, split ="\\\\")[[1]]) >= 1){
fn1 <- strsplit(termPath, split ="\\\\")[[1]]
len <- length(fn1)
fname <- strsplit(fn1[len],split = "_Keywords")[[1]][1]
fileName<-paste(fname,"_GeneList.txt",sep="")
}else{
fname <- strsplit(termPath,split = "_Keywords")[[1]][1]
fileName<-paste(fname,"_GeneList.txt",sep="")
}
}else{stop("Method of input not selected")}
rownames(dat_Final)<-NULL
write.table(dat_Final,file.path(outpath,fileName),
col.names = c("Genes","Terms", "ClinicalSignificance"),row.names=FALSE,sep="\t")
}
else if (returnMethod=="dataFrame"){
dat_Final<-dat_Final
}
else{
stop ("Return Method Incorrect")
}
if (removeClinvar == TRUE){
file.remove(clinvar)
}else{
print("keeping the Clinvar files")
}
if (removeGTR == TRUE){
file.remove(gtr)
}else{
print("keeping the GTR files")
}
return(dat_Final)
}
#' Extracting genes from gene database NCBI.
#'
#' @param terms Single or Multiple Terms.
#' @return Dataframe returned containing gene lists in entrezid and Gene
#' Symbols, and terms associated with it
#' @examples
#' terms="Liver cirrhosis"
#' ge <- gene_extraction(terms)
#' @import rentrez utils
#' @importFrom stats na.omit
#' @import httr
#' @importFrom AnnotationDbi mapIds
#' @import org.Hs.eg.db
#' @export
gene_extraction<-function(terms){
##Initializing values
geneName<-c()
Final_terms <-c()
#httr::set_config(httr::config(http_version = 0))
##Initialising data to be extracted from ensembl
'ensembl = useMart("ensembl",host = "www.ensembl.org",
ensemblRedirect = FALSE,dataset="hsapiens_gene_ensembl")'
##Checking for term size and extracting gene list accordingly
if (length(terms)>1){ #checking for terms greater than 1
for(ll in seq_len(length(terms))){
print(terms[ll])
##Searching Entrez with the terms
print(paste0("Gene:", ll))
patl <- paste(terms[ll])
b<-entrez_search(db="gene",term=patl,retmax=99999999)
##Extracting gene IDs, and checking if length of the gene ids
##greater than 0.
geneID<-b$ids
if(any(geneID == "") != FALSE | length(geneID) == 0){
dat1 <- ""
return(dat1)
stop("geneIDs not found!!!!")
} else if (length(mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID")) == 0){
dat1 <- ""
return(dat1)
stop("geneIDs not found!!!!")
}else{geneID <- geneID}
gg1<-data.frame()
##Checking if geneids greater than 0, if not moved to the next term
if(length(geneID)>0){
#print(paste("GeneID length:",length(geneID),sep=""))
##uid<-c();geneNam<-c();desc<-c();status<-c()
#geneNam<-c()
#for(ii in 1:length(geneID)){
# a<-entrez_summary(db="gene", id=geneID[ii])
# ##uid<-c(uid,as.character(a$uid))
# geneNam<-c(geneNam,toupper(a$name))
#
# ##desc<-c(desc,a$description)
# ##status<-c(status,a$status)
# }
##extractingthe gene Symbols associated with the gene id from
##Biomart.
gn1 <- tryCatch(
mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
gn2 = tryCatch(
mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
if (length(unique(as.character(na.omit(gn1)))) ==0)
{next}
else {gn1 = gn1}
if (length(unique(as.character(na.omit(gn2)))) ==0)
{next}
else {gn2 = gn2}
rn <- row.names(data.frame(gn1))
rn1 <- row.names(data.frame(gn2))
gene1<-data.frame(
entrezID = as.numeric(rn),
ensemblID = as.character(data.frame(gn2)[,1]),
hgnc_symbol = as.character(data.frame(gn1)[,1])
)
gn<-as.character(unique(gene1$hgnc_symbol))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
geneName<-c(geneName,as.character(gn_1))
terms_list<-as.character(rep(paste(terms[ll],"_Gene",sep=""),
length(gn_1)))
Final_terms<-c(Final_terms,terms_list)
}
else{next}
}
}
else if (length(terms)==1){
#checking for terms equal to 1
##Searching in the entrez database
patl <- paste(terms)
b<-entrez_search(db="gene", term=patl, retmax=99999999)
geneID<-b$ids
if(any(geneID == "") != FALSE | length(geneID) == 0){
dat1 <- ""
return(dat1)
stop("geneIDs not found!!!!")
} else if (length(mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID")) == 0){
dat1 <- ""
return(dat1)
stop("geneIDs not found!!!!")
}else{geneID <- geneID}
gg1<-data.frame()
##Checking if geneids greater than 0, if not moved to the next term
if(length(geneID)>0){
print(paste("GeneID length:",length(geneID),sep=""))
##uid<-c();geneNam<-c();desc<-c();status<-c()
#geneNam<-c()
#for(ii in 1:length(geneID)){
# a<-entrez_summary(db="gene", id=geneID[ii])
# ##uid<-c(uid,as.character(a$uid))
# geneNam<-c(geneNam,toupper(a$name))
#
# ##desc<-c(desc,a$description)
# ##status<-c(status,a$status)
# }
##Extracting gene symbols using BiMart
gn1 <- mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID")
gn2 <- mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID")
rn <- row.names(data.frame(gn2))
rn1 <- row.names(data.frame(gn2))
gene1<-data.frame(
entrezID = as.numeric(rn),
ensemblID = as.character(data.frame(gn2)[,1]),
hgnc_symbol = as.character(data.frame(gn1)[,1])
)
gn<-as.character(unique(gene1$hgnc_symbol))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
geneName<-c(geneName,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,"_Gene",sep=""),
length(gn_1)))
Final_terms<-c(Final_terms,terms_list)
}
else{
print ("No genes for term !!")
}
}
else{
stop("Term length is zero")
}
##Data written to the dataframe and returned
dat1<-data.frame(geneName,Final_terms)
#Finaldata<-c()
#print(paste("GeneName length:",length(geneName),sep=""))
return(dat1)
}
#' Extracting genes from OMIM database NCBI.
#'
#' @param terms character Single or Multiple Terms.
#' @param omim character omim database location.
#' @return Dataframe returned containing gene lists in entrezid and Gene
#' Symbols, and terms associated with it
#' @examples
#' terms="Liver cirrhosis"
#' omim = system.file("extdata", "mim2gene.txt", package="nanotatoR")
#' ge <- omim_gene(terms = terms, omim = omim)
#' @import rentrez
#' @import utils
#' @importFrom AnnotationDbi mapIds
#' @import org.Hs.eg.db
#' @importFrom stats na.omit
#' @import httr
#' @export
omim_gene<-function(terms, omim){
##Initialising variables
omimGenes<-c()
Final_terms_OMIM<-c()
#httr::set_config(httr::config(http_version = 0))
##Initialising data to be extracted from ensembl
####Checking for term size and extracting gene list accordingly
print(paste0("omim_gene",omim))
datOmim <- reading_mim2gene(omim = omim)
if (length(terms)>1){
##Length of the terms input greater than 1.
for(ll in seq_len(length(terms))){
print(paste0("OMIM:", ll))
## Searching the OMIM database for terms and Gene IDs extracted
#patl <- paste(terms[ll],"[DIS]")
'c<-entrez_search(db="omim",term=paste(terms[ll],"[WORD]",sep=""),
retmax=99999999)'
d<-entrez_search(db="omim",term=paste(terms[ll],"[DIS]",sep=""),
retmax=99999999)
geneName <- c()
#omimgeneID_word<-c$ids
omimgeneID_dis<-d$ids
final_omim<-unique(as.character(omimgeneID_dis))
##Checking if geneids greater than 0, if not moved to the next term
if(length(final_omim)>0){
#omimgen<-c()
#for (kk in 1:length(final_omim)){
#k<-entrez_summary(db="omim", id=final_omim[kk])
#gene<-as.character(k$title)
#st<-strsplit(gene,split=";")
#omimgen<-c(omimgen,as.character(toupper(st[[1]][2])))
#}
###Extracting OMIM data
omimid <- datOmim[,1]
geneOmim <- datOmim[,2]
pas <- paste0("^",omimid,"$")
pasq <- paste0("^",final_omim,"$")
geneID <- c()
for(ii in 1:length(pasq)){
g1 <- grep(pasq[ii], pas, fixed = TRUE)
geneID <- c(geneID, as.character(geneOmim[g1]))
}
geneID <- na.omit(as.character(geneID))
##Get the Human gene symbols for the extracted Gene IDs
gn1 <- tryCatch(
mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
gn2 = tryCatch(
mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
if (length(unique(as.character(na.omit(gn1)))) ==0)
{next}
else {gn1 = gn1}
if (length(unique(as.character(na.omit(gn2)))) ==0)
{next}
else {gn2 = gn2}
'gn1 <- mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID")
gn2 <- mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID")'
rn <- row.names(data.frame(gn1))
rn1 <- row.names(data.frame(gn2))
gene1<-data.frame(
entrezID = as.numeric(rn),
ensemblID = as.character(data.frame(gn2)[,1]),
hgnc_symbol = as.character(data.frame(gn1)[,1])
)
gn<-as.character(unique(gene1$hgnc_symbol))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
omimGenes<-c(omimGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms[ll],"_OMIM",sep=""),
length(gn_1)))
Final_terms_OMIM<-c(Final_terms_OMIM,terms_list)
}
else{
next
}
}
}
else if (length(terms)==1){
##Extracting data from OMIM
'c<-entrez_search(db="omim",term=paste(terms,"[WORD]",sep=""),
retmax=99999999)'
d <- entrez_search(db="omim",term=paste(terms,"[DIS]",sep=""),
retmax=99999999)
#omimgeneID_word<-c$ids
omimgeneID_dis<-d$ids
final_omim<-unique(c(as.character(omimgeneID_dis)))
##Checking if geneids greater than 0, if not move to the next term
if(length(final_omim)>0){
#omimgen<-c()
#for (kk in 1:length(final_omim)){
#k<-entrez_summary(db="omim", id=final_omim[kk])
#gene<-as.character(k$title)
#st<-strsplit(gene,split=";")
#omimgen<-c(omimgen,as.character(toupper(st[[1]][2])))
#}
##Extract Gene Symols throug Bionano
omimid <- datOmim[,1]
geneOmim <- datOmim[,2]
pas <- paste0("^",omimid,"$")
pasq <- paste0("^",final_omim,"$")
geneID <- c()
for(ii in 1:length(pasq)){
g1 <- grep(pasq[ii], pas, fixed = TRUE)
geneID <- c(geneID, as.character(geneOmim[g1]))
}
geneID <- na.omit(as.character(geneID))
gn1 <- tryCatch(
mapIds(org.Hs.eg.db, geneID, "SYMBOL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
gn2 = tryCatch(
mapIds(org.Hs.eg.db, geneID, "ENSEMBL", "ENTREZID"),
warning = function(w) {
print("warning")
return(NA)},
error = function(e) {
print("Error")
return(NA)}
)
#if (length(unique(as.character(na.omit(gn1)))) ==0) {next} else {gn1 = gn1}
#if (length(unique(as.character(na.omit(gn2)))) ==0) {next} else {gn2 = gn2}
rn <- row.names(data.frame(gn1))
rn1 <- row.names(data.frame(gn2))
gene1<-data.frame(
entrezID = as.numeric(rn),
ensemblID = as.character(data.frame(gn2)[,1]),
hgnc_symbol = as.character(data.frame(gn1)[,1])
)
gn<-as.character(unique(gene1$hgnc_symbol))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
omimGenes<-c(omimGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,"_OMIM",sep=""),
length(gn_1)))
Final_terms_OMIM<-c(Final_terms_OMIM,terms_list)
}
else{
print ("No genes for term !!")
}
}
else{
stop("Term length is zero")
}
##Writing data into data frame and returning
dat2<-data.frame(omimGenes,Final_terms_OMIM)
print(paste("OMIM GeneName length:",length(omimGenes),sep=""))
return(dat2)
}
#' Extracting genes from gtr database NCBI.
#'
#' @param terms Single or Multiple Terms.
#' @param gtr character gtr database location.
#' @param downloadGTR boolean If TRUE, download the gtr database.
#' Default FALSE.
#' @param url_gtr character url for gtr database.
#' @return Dataframe returned containing gene lists in entrezid and Gene
#' Symbols, and terms associated with it
#' @examples
#' terms="Liver cirrhosis"
#' gtr = system.file("extdata", "gtrDatabase.txt", package="nanotatoR")
#' ge <- gtr_gene(terms = terms,gtr = gtr, downloadGTR = FALSE)
#' @importFrom stats na.omit
#' @importFrom AnnotationDbi mapIds
#' @import org.Hs.eg.db
#' @export
gtr_gene<-function(terms, gtr, url_gtr, downloadGTR = TRUE){
##Initialising variables
print("###GTR data Analysis###")
gtrGenes<-c()
Final_terms_GTR<-c()
print(downloadGTR)
##Initialising data to be extracted from ensembl
#httr::set_config(httr::config(http_version = 0))
datGtr <- reading_GTR(gtr = gtr,
url_gtr = url_gtr,
downloadGTR = downloadGTR)
####Checking for term size and extracting gene list accordingly
if (length(terms)>1){
for(ll in seq_len(length(terms))){##if term length greater than 1
##Extracting data from GTR database
print(paste0("GTR:", ll))
'e<-entrez_search(db="gtr",term=terms[ll],retmax=99999999)
gtrgeneID<-e$ids'
g1 <- grep(as.character(terms[ll]),
as.character(datGtr$DiseaseName), ignore.case = TRUE)
geneID <- as.character(unique(na.omit(datGtr$GeneID[g1])))
geneID <- gsub("N/A", NA, geneID)
##Checking if gene ID extracted is greater than 0
if(length(geneID) > length(is.na(geneID))){
gn<-as.character(unique(geneID))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
gtrGenes<-c(gtrGenes,as.character(gn_1))
terms_list<-as.character(
rep(paste(terms[ll],"_GTR",sep=""),
length(gn_1)))
Final_terms_GTR<-c(Final_terms_GTR,terms_list)
}
else{
print ("No genes for term !!")
next
}
}
}
else if (length(terms)==1){##For single terms
##Extracting data from GTR
g1 <- grep(as.character(terms), as.character(datGtr$DiseaseName),
ignore.case = TRUE)
geneID <- as.character(unique(na.omit(datGtr$GeneID[g1])))
geneID <- gsub("N/A", NA, geneID)
##Checking if gene ID extracted is greater than 0
if(length(geneID) > length(is.na(geneID))){
gn<-as.character(unique(geneID))
gn_1_temp <- gn[gn != ""]
gn_1 <- as.character(na.omit(gn_1_temp))
gtrGenes<-c(gtrGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,"_GTR",sep=""),
length(gn_1)))
Final_terms_GTR<-c(Final_terms_GTR,terms_list)
}
else{
print ("No genes for term !!")
}
}
else {##If term length is zero
stop("Term length is zero")
}
##Writing data into data frame and returning
dat3<-data.frame(gtrGenes,Final_terms_GTR)
print(paste("gtrGenes GeneName length:",length(gtrGenes),sep=""))
return(dat3)
}
#' Extracting genes from clinvar database NCBI.
#'
#' @param terms Single or Multiple Terms.
#' @param clinvar character clinvar database location.
#' @param downloadClinvar boolean If TRUE, download the gtr database.
#' Default FALSE.
#' @param omimID numeric Omim Id for disease.
#' @return Dataframe returned containing gene lists in entrezid and Gene
#' Symbols, and terms associated with it
#' @examples
#' terms="Liver cirrhosis"
#' clinvar = system.file("extdata", "localPDB/", package="nanotatoR")
#' downloadClinvar = FALSE
#' ge <- clinvar_gene(terms = terms, clinvar = clinvar,
#' downloadClinvar = downloadClinvar,
#' omimID = "OMIM:118980")
#' @importFrom stats na.omit
clinvar_gene<-function(terms,
clinvar,
downloadClinvar,
omimID = NULL){
print("###Clinvar data Analysis###")
##Initializing variables
clinvarGenes <- c()
Final_terms_Clinvar = c()
clinicalSig = c()
#clinsig = clinsig
#print(downloadClinvar)
##Initialising the database
'httr::set_config(httr::config(http_version = 0))
datclinvar <- reading_clinvar(clinvar = clinvar,
downloadClinvar = downloadClinvar, url_clinvar = url_clinvar)'
if (length(terms)>1){
for(ll in seq_len(length(terms))){
print(paste0("Clinvar:", ll))
'e<-entrez_search(db="gtr",term=terms[ll],retmax=99999999)
gtrgeneID<-e$ids'
if(downloadClinvar == TRUE){
clinvar.phenotype = extract_clinvar_mod(
keyword = terms[ll])
}else{
clinvar.phenotype = extract_clinvar_mod(keyword= terms[ll],
localPDB.path = clinvar,
HPO.disease = omimID)
}
'g1 <- grep(as.character(terms[ll]), as.character(datclinvar$DiseaseName),
ignore.case = TRUE)'
dis2genes <- clinvar.phenotype$gene2dis
disterms <- clinvar.phenotype$gene2dis$DiseaseName
pterms <- terms[ll]
'pterms1 <- paste0(";", terms[ll], ";")
pterms2 <- paste0(";", terms[ll])
pterms3 <- paste0(terms[ll], ";")'
g1 <- grep(pterms, as.character(disterms), ignore.case=TRUE)
'g2 <- grep(pterms1, as.character(disterms), ignore.case=TRUE)
g3 <- grep(pterms2, as.character(disterms), ignore.case=TRUE)
g4 <- grep(pterms3, as.character(disterms), ignore.case=TRUE) '
geneID <- unique(as.numeric(dis2genes$X.GeneID[g1]))
omim <- unique(as.numeric(dis2genes$DiseaseMIM[g1]))
varn <- clinvar.phenotype$variants
st1 <- strsplit(as.character(varn$PhenotypeIDS), split = ",")
varn$omimID <- sapply(st1, function(x) strsplit(x[2],split="OMIM:")[[1]][2])
print(geneID)
genes <- c()
clinsigfig <- c()
termsclinvar <- c()
if (length(geneID) > 0){
for(ii in 1:length(geneID)){
da1 <- varn[which(varn$GeneID == geneID[ii] &
(varn$ClinicalSignificance == "Benign"
| varn$ClinicalSignificance == "Likely Benign"
| varn$ClinicalSignificance == "Benign/Likely benign"
| varn$ClinicalSignificance == "Uncertain significance"
| varn$ClinicalSignificance == "Pathogenic/Likely pathogenic"
| varn$ClinicalSignificance == "Pathogenic"
| varn$ClinicalSignificance == "Likely pathogenic")),]
if(nrow(da1)>1){
if(length(unique(da1$GeneSymbol)) > 1){
ungenes <- as.character(unique(da1$GeneSymbol))
for(ff in 1:length(ungenes)){
if(sapply(gregexpr("\\S+", ungenes[ff]), length) == 1){
genes <- c(genes, as.character(ungenes[ff]))
}else{
genes <- c(genes, ".")
}
}
}else{
ungenes <- as.character(unique(da1$GeneSymbol))
if(sapply(gregexpr("\\S+", ungenes), length) == 1){
genes <- c(genes, as.character(ungenes))
}else{
genes <- c(genes, ".")
}
}
print(paste(ii, ":", genes))
g1 <- grep("Pathogenic/Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
g2 <- grep("Pathogenic", da1$ClinicalSignificance,
ignore.case = TRUE)
g3 <- grep("Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
if((length(g1) >= 1
& length(g2) >= 1
& length(g3) >= 1)
|(length(g1) >= 1
| length(g2) >= 1
| length(g3) >= 1)){
cs <- "Pathogenic/Likely pathogenic"
}else{cs <- as.character("-")}
if(length(cs) > 1){
csp <- paste(cs, collapse = ",")
}else {csp <- cs}
clinsigfig <- c(clinsigfig, csp)
}else{ genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")
}
}
}else if (length(geneID) == 1){
da1 <- varn[which(varn$GeneID == geneID &
(varn$ClinicalSignificance == "Benign"
| varn$ClinicalSignificance == "Likely Benign"
| varn$ClinicalSignificance == "Benign/Likely benign"
| varn$ClinicalSignificance == "Uncertain significance"
| varn$ClinicalSignificance == "Pathogenic/Likely pathogenic"
| varn$ClinicalSignificance == "Pathogenic"
| varn$ClinicalSignificance == "Likely pathogenic")),]
if(nrow(da1) > 0){
#genes <- c(genes, as.character(unique(da1$GeneSymbol)))
g1 <- grep("Pathogenic/Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
g2 <- grep("Pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
g3 <- grep("Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
if((length(g1) >= 1
& length(g2) >= 1
& length(g3) >= 1)
|(length(g1) >= 1
| length(g2) >= 1
| length(g3) >= 1)){
cs <- "Pathogenic/Likely pathogenic"
}else{cs <- as.character("-")}
if(length(unique(da1$GeneSymbol)) > 1){
ungenes <- as.character(unique(da1$GeneSymbol))
for(ff in 1:length(ungenes)){
if(sapply(gregexpr("\\S+", ungenes[ff]), length) == 1){
genes <- c(genes, as.character(ungenes[ff]))
}else{
genes <- c(genes, ".")
}
}
}else{
ungenes <- as.character(unique(da1$GeneSymbol))
if(sapply(gregexpr("\\S+", ungenes), length) == 1){
genes <- c(genes, as.character(ungenes))
}else{
genes <- c(genes, ".")
}
}
#cs <- as.character(unique(da1$ClinicalSignificance))
if(length(cs) > 1){
csp <- paste(unique(cs), collapse = ",")
}
else {csp <- unique(cs)}
clinsigfig <- c(clinsigfig,csp)
}else{genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")}
}else{
genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")
}
##Checking if gene ID extracted is greater than 0
if(length(genes) > 0){
if((length(genes) > 1)){
gn<-as.character(unique(genes))
gn_1_temp <- gn[gn != "."]
gn_1 <- as.character(na.omit(gn_1_temp))
clinvarGenes<-c(clinvarGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms[ll],
"_ClinVar",sep=""), length(gn_1)))
Final_terms_Clinvar <- c(Final_terms_Clinvar,terms_list)
clinsigfig<-as.character(rep("Pathogenic/Likely pathogenic", length(gn_1)))
clinicalSig <- c(clinicalSig, as.character(clinsigfig))
}else if ((length(genes) == 1 & length(grep("\\.", genes)) == 1)){
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
} else if (length(genes) == 1){
gn<-as.character(unique(genes))
gn_1_temp <- gn[gn != "."]
gn_1 <- as.character(na.omit(gn_1_temp))
clinvarGenes<-c(clinvarGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms[ll],
"_ClinVar",sep=""), length(gn_1)))
Final_terms_Clinvar <- c(Final_terms_Clinvar,terms_list)
clinsigfig<-as.character(rep("Pathogenic/Likely pathogenic", length(gn_1)))
clinicalSig <- c(clinicalSig, as.character(clinsigfig))
}
else{
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
}else{
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
print(paste("clinicalSig:",length(clinicalSig)))
print(paste("genes:",length(clinvarGenes)))
}
}
else if (length(terms)==1){##Checking if term is single
##Extracting data from Clinvar
genes <- c()
clinsigfig <- c()
#print(clinsig)
if(downloadClinvar == TRUE){
clinvar.phenotype = extract_clinvar_mod(keyword= terms)
}else{
clinvar.phenotype = extract_clinvar_mod(keyword= terms,
localPDB.path = clinvar, HPO.disease = omimID)
}
'g1 <- grep(as.character(terms[ll]), as.character(datclinvar$DiseaseName),
ignore.case = TRUE)'
dis2genes <- clinvar.phenotype$gene2dis
disterms <- clinvar.phenotype$gene2dis$DiseaseName
pterms <- terms
'pterms1 <- paste0(";", terms[ll], ";")
pterms2 <- paste0(";", terms[ll])
pterms3 <- paste0(terms[ll], ";")'
g1 <- grep(pterms, as.character(disterms), ignore.case=TRUE)
'g2 <- grep(pterms1, as.character(disterms), ignore.case=TRUE)
g3 <- grep(pterms2, as.character(disterms), ignore.case=TRUE)
g4 <- grep(pterms3, as.character(disterms), ignore.case=TRUE) '
geneID <- unique(as.numeric(dis2genes$X.GeneID[g1]))
omim <- unique(as.numeric(dis2genes$DiseaseMIM[g1]))
varn <- clinvar.phenotype$variants
st1 <- strsplit(as.character(varn$PhenotypeIDS), split = ",")
varn$omimID <- sapply(st1, function(x) strsplit(x[2],split="OMIM:")[[1]][2])
if (length(geneID) > 1){
for(ii in 1:length(geneID)){
da1 <- varn[which(varn$GeneID == geneID[ii] &
(varn$ClinicalSignificance == "Benign"
| varn$ClinicalSignificance == "Likely Benign"
| varn$ClinicalSignificance == "Benign/Likely benign"
| varn$ClinicalSignificance == "Uncertain significance"
| varn$ClinicalSignificance == "Pathogenic/Likely pathogenic"
| varn$ClinicalSignificance == "Pathogenic"
| varn$ClinicalSignificance == "Likely pathogenic")),]
if(nrow(da1)>0){
if(length(unique(da1$GeneSymbol)) > 1){
ungenes <- as.character(unique(da1$GeneSymbol))
for(ff in 1:length(ungenes)){
if(sapply(gregexpr("\\S+", ungenes[ff]), length) == 1){
genes <- c(genes, as.character(ungenes[ff]))
}else{
genes <- c(genes, ".")
}
}
}else{
ungenes <- as.character(unique(da1$GeneSymbol))
if(sapply(gregexpr("\\S+", ungenes), length) == 1){
genes <- c(genes, as.character(ungenes))
}else{
genes <- c(genes, ".")
}
}
g1 <- grep("Pathogenic/Likely pathogenic", da1$ClinicalSignificance, ignore.case = TRUE)
g2 <- grep("Pathogenic", da1$ClinicalSignificance, ignore.case = TRUE)
g3 <- grep("Likely pathogenic", da1$ClinicalSignificance, ignore.case = TRUE)
if(((length(g1) >= 1 & length(g2) >= 1 & length(g3) >= 1)
|(length(g1) >= 1 | length(g2) >= 1 | length(g3) >= 1))){
cs <- "Pathogenic/Likely pathogenic"
}else{cs <- as.character("-")}
if(length(cs) > 1){
csp <- paste(cs, collapse = ",")
}
else {csp <- cs}
clinsigfig <- c(clinsigfig,csp)
}else { genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")}
}
}else if (length(geneID) == 1){
da1 <- varn[which(varn$GeneID == geneID &
(varn$ClinicalSignificance == "Benign"
| varn$ClinicalSignificance == "Likely Benign"
| varn$ClinicalSignificance == "Benign/Likely benign"
| varn$ClinicalSignificance == "Uncertain significance"
| varn$ClinicalSignificance == "Pathogenic/Likely pathogenic"
| varn$ClinicalSignificance == "Pathogenic"
| varn$ClinicalSignificance == "Likely pathogenic")),]
if(nrow(da1)>0){
if(length(unique(da1$GeneSymbol)) > 1){
ungenes <- as.character(unique(da1$GeneSymbol))
for(ff in 1:length(ungenes)){
if(sapply(gregexpr("\\S+", ungenes[ff]), length) == 1){
genes <- c(genes, as.character(ungenes[ff]))
}else{
genes <- c(genes, ".")
}
}
}else{
ungenes <- as.character(unique(da1$GeneSymbol))
if(sapply(gregexpr("\\S+", ungenes), length) == 1){
genes <- c(genes, as.character(ungenes))
}else{
genes <- c(genes, ".")
}
}
g1 <- grep("Pathogenic/Likely pathogenic", da1$ClinicalSignificance, ignore.case = TRUE)
g2 <- grep("Pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
g3 <- grep("Likely pathogenic",
da1$ClinicalSignificance, ignore.case = TRUE)
if(((length(g1) >= 1
& length(g2) >= 1
& length(g3) >= 1)
|(length(g1) >= 1
| length(g2) >= 1
| length(g3) >= 1))){
cs <- "Pathogenic/Likely pathogenic"
}else{cs <- as.character("-")}
if(length(cs) > 1){
csp <- paste(cs, collapse = ",")
}
else {csp <- cs}
clinsigfig <- c(clinsigfig,csp)
}else{genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")}
}else{
genes <- c(genes, ".")
clinsigfig <- c(clinsigfig, "-")
}
##Checking if gene ID extracted is greater than 0
if(length(genes) > 0){
if((length(genes) > 1)){
gn<-as.character(unique(genes))
gn_1_temp <- gn[gn != "."]
gn_1 <- as.character(na.omit(gn_1_temp))
clinvarGenes<-c(clinvarGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,
"_ClinVar",sep=""), length(gn_1)))
Final_terms_Clinvar <- c(Final_terms_Clinvar,terms_list)
clinsigfig<-as.character(rep("Pathogenic/Likely pathogenic", length(gn_1)))
clinicalSig <- c(clinicalSig, as.character(clinsigfig))
}else if ((length(genes) == 1 & length(grep("\\.", genes)) == 1)){
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
} else if (length(genes) == 1){
gn<-as.character(unique(genes))
gn_1_temp <- gn[gn != "."]
gn_1 <- as.character(na.omit(gn_1_temp))
clinvarGenes<-c(clinvarGenes,as.character(gn_1))
terms_list<-as.character(rep(paste(terms,
"_ClinVar",sep=""), length(gn_1)))
Final_terms_Clinvar <- c(Final_terms_Clinvar,terms_list)
clinsigfig<-as.character(rep("Pathogenic/Likely pathogenic", length(gn_1)))
clinicalSig <- c(clinicalSig, as.character(clinsigfig))
}
else{
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
}else{
print ("No genes for term !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
}else{
print ("No terms present !!")
'clinvarGenes <- "-"
Final_terms_Clinvar = "-"
clinicalSig = "-"'
}
##Writing gene and terms into dataframe and returning
dat4 <- data.frame(clinvarGenes,Final_terms_Clinvar, clinicalSig)
#print(paste("clinvarGenes GeneName length:",length(clinvarGenes),sep=""))
return(dat4)
}
#' Reading and parsing OMIM database.
#'
#' @param omim character omim database location.
#' @return Dataframe returned containing Omim ID and gene IDs.
#' @examples
#' omim = system.file("extdata", "mim2gene.txt", package="nanotatoR")
#' a <- reading_mim2gene(omim = omim)
#' @importFrom stats na.omit
#' @import utils
#' @export
reading_mim2gene <- function(omim){
omim = omim
print(omim)
print(paste0("omim_gene",omim))
con <- file(omim, "r")
r10 <- readLines(con, n = -1)
close(con)
# datfinal<-data.frame()
# datfinal<-data.frame()
g1 <- grep("MIM Number", r10)
g2 <- grep("Entrez Gene ID \\(NCBI\\)", r10)
print(g1)
print(g2)
'gg1 <- grep("# BSPQI Sample", r10)
stt <- strsplit(r10[gg1], split = ":")
fname_temp <- stt[[1]][2]'
#print (paste0("SampleName:", fname))
if (g1 == g2) {
dat <- gsub("#", "", as.character(r10))
# dat<-gsub('\t',' ',r10)
dat4 <- textConnection(dat[g1:length(dat)])
r1 <- read.table(dat4, sep = "\t", header = TRUE)
close(dat4)
} else {
stop("column names doesnot Match")
}
dat <- data.frame(OMIMID = as.character(r1[,1]), GeneID = as.character(r1[,3]))
return(dat)
}
#' Reading and parsing gtr database.
#'
#' @param gtr character gtr database location.
#' @param downloadGTR logical if true, downloads gtr database, .
#' and store data in the gtr location, else reads dataset from
#' gtr location.
#' @param url_gtr character url for gtr database.
#' @return Dataframe representation of gtr database.
#' @examples
#' a <- reading_GTR(
#' gtr = system.file("extdata", "gtrDatabase.txt", package="nanotatoR"),
#' downloadGTR = FALSE)
#' @importFrom stats na.omit
#' @import utils
#' @export
reading_GTR <- function(gtr, downloadGTR,
url_gtr = "ftp://ftp.ncbi.nlm.nih.gov/pub/GTR/data/test_condition_gene.txt"){
downloadGTR = downloadGTR
if(downloadGTR == TRUE){
download.file(url = url_gtr,
destfile = gtr)
tab <- read.table(gtr, sep="\t", header=TRUE, comment.char="",
na.strings=".", stringsAsFactors=FALSE,
quote="", fill=FALSE)
dat <- data.frame(GeneID = as.character(tab$gene_symbol),
DiseaseName = as.character(tab$object_name))
}
else{
tab <- read.table(gtr, sep="\t", header=TRUE, comment.char="",
na.strings=".", stringsAsFactors=FALSE,
quote="", fill=FALSE)
dat <- data.frame(GeneID = as.character(tab$gene_symbol),
DiseaseName = as.character(tab$object_name))
}
return(dat)
}
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