BNDBfrequency | Calculates the internal frequencies of BNDB cohorts |
buildrunBNBedFiles | Reads BED files to produce bionano Bed files |
clinvar_gene | Extracting genes from clinvar database NCBI. |
Decipherfrequency | Frequency calculation of variants compared to Decipher. |
DGVfrequency | Frequency calculation of variants compared to DGV. |
extract_clinvar_mod | Extract the genes and variants related to a genetic disorder... |
FamilyInfoPrep | Mapping Realtionship to unique nanoIDs |
gene_extraction | Extracting genes from gene database NCBI. |
gene_list_generation | Extracting genes for phenotype/diseases from NCBI. |
gtr_gene | Extracting genes from gtr database NCBI. |
internalFrequency_solo | Calculates the internal frequencies of SV in internal... |
internalFrequencyTrio_Duo | Calculates the internal frequencies of SV in internal... |
makeInternalBNDatabase | Merges Solo SV files to one common SV file |
merging_SE_SVMerge | Merging Dual and DLE, and adding nanotatoR relation ID |
mergingSMAP_SE | Merging DLE labelled smaps |
mergingSMAP_SVMerge | Merging dual labelled smaps |
nanotatoR | nanotatoR: Annotation package for Bionano Data |
nanotatoR_Duo_SVmerge | Annotation and visualisation of Bionano SV, of SVMerge Duo... |
nanotatoR_main_Duo_SE | Annotation and visualisation of Bionano SV, of Single enzyme... |
nanotatoR_main_Solo_SE | Annotation and visualisation of Bionano SV, of DLE Solo... |
nanotatoR_main_Solo_SVmerge | Annotation and visualisation of Bionano SV, of Solo SVMerge... |
nanotatoR_main_Trio_SE | Annotation and visualisation of Bionano SV, of DLE Trio... |
nanotatoR_SVmerge_Trio | Annotation and visualisation of Bionano SV, of DLE Trio... |
nonOverlapGenes | Calculates Genes that are near to the SV region |
nonOverlappingDNGenes | Extracting terms for genes that overlap SVs |
nonOverlappingUPGenes | Extracting terms for genes that overlap SVs |
nonOverlapRNAseq | Extract Read counts for genes that are near SVs. |
nonOverlapRNAseq_solo | Annotating the Non-Overlapping genes with RNAseq expression |
omim_gene | Extracting genes from OMIM database NCBI. |
overlapGenes | Calculates Genes that overlap the SV region |
overlapnearestgeneSearch | Extracts gene information from bed files |
overlappingGenes | Extracting terms for genes that overlap SVs |
OverlapRNAseq | Extract Read counts for genes that overlap SVs. |
OverlapRNAseq_solo | Annotating the Overlapping genes with RNAseq expression |
phenoextractHPO_mod | Extract the genes related to a disease or disease alias from... |
readBNBedFiles | Reads Bionano Bedfiles |
reading_GTR | Reading and parsing gtr database. |
reading_mim2gene | Reading and parsing OMIM database. |
readSMap | Reads SMAP files to extract information from SVMerge |
readSMap_DLE | Reads DLE SMAP files to extract information |
RNAseqcombine | Combining the RNAseq reads of family members in a single... |
RNAseqcombine_solo | Combining the RNAseq reads of family members in a single... |
run_bionano_filter_SE_duo | Getting the data from annotated smaps to extract SV... |
run_bionano_filter_SE_solo | Getting the data from annotated smaps to extract SV... |
run_bionano_filter_SE_Trio | Getting the data from annotated smaps to extract SV... |
run_bionano_filter_SVMerge_duo | Getting the data from annotated smaps to extract SV... |
run_bionano_filter_SVMerge_solo | Getting the data from annotated smaps to extract SV... |
run_bionano_filter_SVMerge_Trio | Getting the data from annotated smaps to extract SV... |
SVexpression_duo_trio | Extract Read counts for genes that are near or overalapping... |
SVexpression_solo | Annotating the Overlapping and Non-Overlapping genes with... |
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