Man pages for VilainLab/nanotatoR
Next generation structural variant annotation and classification

BNDBfrequencyCalculates the internal frequencies of BNDB cohorts
buildrunBNBedFilesReads BED files to produce bionano Bed files
clinvar_geneExtracting genes from clinvar database NCBI.
DecipherfrequencyFrequency calculation of variants compared to Decipher.
DGVfrequencyFrequency calculation of variants compared to DGV.
extract_clinvar_modExtract the genes and variants related to a genetic disorder...
FamilyInfoPrepMapping Realtionship to unique nanoIDs
gene_extractionExtracting genes from gene database NCBI.
gene_list_generationExtracting genes for phenotype/diseases from NCBI.
gtr_geneExtracting genes from gtr database NCBI.
internalFrequency_soloCalculates the internal frequencies of SV in internal...
internalFrequencyTrio_DuoCalculates the internal frequencies of SV in internal...
makeInternalBNDatabaseMerges Solo SV files to one common SV file
merging_SE_SVMergeMerging Dual and DLE, and adding nanotatoR relation ID
mergingSMAP_SEMerging DLE labelled smaps
mergingSMAP_SVMergeMerging dual labelled smaps
nanotatoRnanotatoR: Annotation package for Bionano Data
nanotatoR_Duo_SVmergeAnnotation and visualisation of Bionano SV, of SVMerge Duo...
nanotatoR_main_Duo_SEAnnotation and visualisation of Bionano SV, of Single enzyme...
nanotatoR_main_Solo_SEAnnotation and visualisation of Bionano SV, of DLE Solo...
nanotatoR_main_Solo_SVmergeAnnotation and visualisation of Bionano SV, of Solo SVMerge...
nanotatoR_main_Trio_SEAnnotation and visualisation of Bionano SV, of DLE Trio...
nanotatoR_SVmerge_TrioAnnotation and visualisation of Bionano SV, of DLE Trio...
nonOverlapGenesCalculates Genes that are near to the SV region
nonOverlappingDNGenesExtracting terms for genes that overlap SVs
nonOverlappingUPGenesExtracting terms for genes that overlap SVs
nonOverlapRNAseqExtract Read counts for genes that are near SVs.
nonOverlapRNAseq_soloAnnotating the Non-Overlapping genes with RNAseq expression
omim_geneExtracting genes from OMIM database NCBI.
overlapGenesCalculates Genes that overlap the SV region
overlapnearestgeneSearchExtracts gene information from bed files
overlappingGenesExtracting terms for genes that overlap SVs
OverlapRNAseqExtract Read counts for genes that overlap SVs.
OverlapRNAseq_soloAnnotating the Overlapping genes with RNAseq expression
phenoextractHPO_modExtract the genes related to a disease or disease alias from...
readBNBedFilesReads Bionano Bedfiles
reading_GTRReading and parsing gtr database.
reading_mim2geneReading and parsing OMIM database.
readSMapReads SMAP files to extract information from SVMerge
readSMap_DLEReads DLE SMAP files to extract information
RNAseqcombineCombining the RNAseq reads of family members in a single...
RNAseqcombine_soloCombining the RNAseq reads of family members in a single...
run_bionano_filter_SE_duoGetting the data from annotated smaps to extract SV...
run_bionano_filter_SE_soloGetting the data from annotated smaps to extract SV...
run_bionano_filter_SE_TrioGetting the data from annotated smaps to extract SV...
run_bionano_filter_SVMerge_duoGetting the data from annotated smaps to extract SV...
run_bionano_filter_SVMerge_soloGetting the data from annotated smaps to extract SV...
run_bionano_filter_SVMerge_TrioGetting the data from annotated smaps to extract SV...
SVexpression_duo_trioExtract Read counts for genes that are near or overalapping...
SVexpression_soloAnnotating the Overlapping and Non-Overlapping genes with...
VilainLab/nanotatoR documentation built on Aug. 3, 2024, 12:46 a.m.