diff --git a/tools/exomedepth/.shed.yml b/tools/exomedepth/.shed.yml new file mode 100644 index 00000000000..2771ac065b9 --- /dev/null +++ b/tools/exomedepth/.shed.yml @@ -0,0 +1,11 @@ +categories: +- Sequence Analysis +- Variant Analysis +description: "ExomeDepth: Calls copy number variants (CNVs) from targeted sequence data" +homepage_url: https://cran.r-project.org/package=ExomeDepth +long_description: | + Calls copy number variants (CNVs) from targeted sequence data, typically exome sequencing + experiments designed to identify the genetic basis of Mendelian disorders. +name: exomedepth +owner: crs4 +remote_repository_url: https://github.com/galaxyproject/tools-iuc/tree/master/tools/exomedepth diff --git a/tools/exomedepth/exomedepth.R b/tools/exomedepth/exomedepth.R new file mode 100644 index 00000000000..dd975438e83 --- /dev/null +++ b/tools/exomedepth/exomedepth.R @@ -0,0 +1,95 @@ +# Load ExomeDepth library (without warnings) +suppressMessages(library(ExomeDepth)) + +# Import parameters from xml wrapper (args_file) +args <- commandArgs(trailingOnly=TRUE) +param <- read.table(args[1],sep="=", as.is=TRUE) + +# Set common parameters +target <- param[match("target",param[,1]),2] +trans_prob <- as.numeric(param[match("trans_prob",param[,1]),2]) +output <- param[match("output",param[,1]),2] +test_vs_ref <- as.logical(param[match("test_vs_ref",param[,1]),2]) + +# Create symbolic links for multiple bam and bai +bam <- param[param[,1]=="bam",2] +bam_bai <- param[param[,1]=="bam_bai",2] +bam_label <- param[param[,1]=="bam_label",2] +bam_label <- gsub(" ", "_", bam_label) + +for(i in 1:length(bam)){ + stopifnot(file.symlink(bam[i], paste(bam_label[i], "bam", sep="."))) + stopifnot(file.symlink(bam_bai[i], paste(bam_label[i], "bam.bai", sep="."))) +} + +# Generate read count data +BAMFiles <- paste(bam_label, "bam", sep=".") +sink("/dev/null") +ExomeCount <- suppressMessages(getBamCounts(bed.file=target, bam.files = BAMFiles)) +sink() + +# Convert counts in a data frame +ExomeCount.dafr <- as(ExomeCount[, colnames(ExomeCount)], 'data.frame') + +# Prepare the main matrix of read count data +ExomeCount.mat <- as.matrix(ExomeCount.dafr[, grep(names(ExomeCount.dafr), pattern='.bam')]) + +# Remove .bam from sample name +colnames(ExomeCount.mat) <- gsub(".bam", "", colnames(ExomeCount.mat)) + +# Set nsamples == 1 if mode is test vs reference, assuming test is sample 1 +nsamples <- ifelse(test_vs_ref, 1, ncol(ExomeCount.mat)) + +# Loop over samples +for (i in 1:nsamples){ + + # Create the aggregate reference set for this sample + my.choice <- suppressWarnings(suppressMessages( + select.reference.set(test.counts = ExomeCount.mat[,i], + reference.counts = subset(ExomeCount.mat, select=-i), + bin.length = (ExomeCount.dafr$end - ExomeCount.dafr$start)/1000, + n.bins.reduced = 10000))) + + my.reference.selected <- apply(X = ExomeCount.mat[, my.choice$reference.choice, drop=FALSE], + MAR = 1, + FUN = sum) + + # Now create the ExomeDepth object for the CNVs call + all.exons<-suppressWarnings(suppressMessages(new('ExomeDepth', + test = ExomeCount.mat[,i], + reference = my.reference.selected, + formula = 'cbind(test,reference)~1'))) + + + # Now call the CNVs + result <- try(all.exons<-suppressMessages(CallCNVs(x=all.exons, + transition.probability = trans_prob, + chromosome = ExomeCount.dafr$space, + start = ExomeCount.dafr$start, + end = ExomeCount.dafr$end, + name = ExomeCount.dafr$names)), silent=T) + + # Next if CNVs are not detected + if (class(result)=="try-error"){ + next + } + + # Compute correlation between ref and test + my.cor <- cor(all.exons@reference, all.exons@test) + n.call <- nrow(all.exons@CNV.calls) + + # Write results + my.results <- cbind(all.exons@CNV.calls[,c(7,5,6,3)], + sample=colnames(ExomeCount.mat)[i], + corr=my.cor, + all.exons@CNV.calls[,c(4,9,12)]) + + # Re-order by chr and position + chrOrder<-c(paste("chr",1:22,sep=""),"chrX","chrY","chrM") + my.results[,1] <- factor(my.results[,1], levels=chrOrder) + my.results <- my.results[order(my.results[,1], my.results[,2], my.results[,3]),] + + write.table(sep='\t', quote=FALSE, file = output, + x = my.results, + row.names = FALSE, col.names = FALSE, dec=".", append=TRUE) +} diff --git a/tools/exomedepth/exomedepth.xml b/tools/exomedepth/exomedepth.xml new file mode 100644 index 00000000000..7541568e918 --- /dev/null +++ b/tools/exomedepth/exomedepth.xml @@ -0,0 +1,124 @@ + + Calls copy number variants (CNVs) from targeted sequence data + + r-exomedepth + + + + + + + + + + + + + + + + + + + ^\S*$ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 10.1093/bioinformatics/btu135 + 10.1093/bioinformatics/bts526 + + diff --git a/tools/exomedepth/test-data/CNV_TruSeq_Chr2.bed b/tools/exomedepth/test-data/CNV_TruSeq_Chr2.bed new file mode 100644 index 00000000000..bc0e775abf6 --- /dev/null +++ b/tools/exomedepth/test-data/CNV_TruSeq_Chr2.bed @@ -0,0 +1,746 @@ +chr2 91824709 91825059 LOC654342 +chr2 91842946 91843023 LOC654342 +chr2 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98392306 98392481 TMEM131 +chr2 98408849 98409447 TMEM131 +chr2 98409858 98410016 TMEM131 +chr2 98411393 98411578 TMEM131 +chr2 98412681 98412867 TMEM131 +chr2 98413307 98413449 TMEM131 +chr2 98413828 98413979 TMEM131 +chr2 98418358 98418424 TMEM131 +chr2 98418891 98419000 TMEM131 +chr2 98419115 98419253 TMEM131 +chr2 98421551 98421668 TMEM131 +chr2 98421839 98421914 TMEM131 +chr2 98422014 98422166 TMEM131 +chr2 98426151 98426237 TMEM131 +chr2 98427591 98427695 TMEM131 +chr2 98428884 98429018 TMEM131 +chr2 98429102 98429212 TMEM131 +chr2 98430434 98430604 TMEM131 +chr2 98430698 98430851 TMEM131 +chr2 98431662 98431770 TMEM131 +chr2 98435076 98435184 TMEM131 +chr2 98449828 98449889 TMEM131 +chr2 98451084 98451140 TMEM131 +chr2 98451238 98451388 TMEM131 +chr2 98453540 98453620 TMEM131 +chr2 98458278 98458400 TMEM131 +chr2 98460608 98460724 TMEM131 +chr2 98475767 98475890 TMEM131 +chr2 98504515 98504583 TMEM131 +chr2 98525121 98525161 TMEM131 +chr2 98543889 98543950 TMEM131 +chr2 98611939 98612354 TMEM131 +chr2 98703595 98703826 VWA3B +chr2 98709524 98709751 VWA3B +chr2 98732115 98732209 VWA3B +chr2 98735976 98736226 VWA3B +chr2 98737762 98737921 VWA3B +chr2 98744702 98744871 VWA3B +chr2 98750287 98750402 VWA3B +chr2 98779314 98779439 VWA3B +chr2 98797479 98797675 VWA3B +chr2 98804438 98804592 VWA3B +chr2 98809361 98809499 VWA3B +chr2 98810824 98810955 VWA3B +chr2 98828393 98828491 VWA3B +chr2 98834309 98834491 VWA3B +chr2 98844665 98844795 VWA3B +chr2 98846513 98846670 VWA3B +chr2 98851111 98851230 VWA3B +chr2 98852853 98852940 VWA3B +chr2 98853037 98853193 VWA3B +chr2 98866781 98866899 VWA3B +chr2 98872587 98872637 VWA3B +chr2 98887145 98887346 VWA3B +chr2 98906974 98907085 VWA3B +chr2 98914370 98914494 VWA3B +chr2 98916542 98916679 VWA3B +chr2 98920165 98920265 VWA3B +chr2 98928282 98928495 VWA3B +chr2 98928663 98929408 VWA3B +chr2 98962618 98962997 CNGA3 +chr2 98986402 98986539 CNGA3 +chr2 98994150 98994263 CNGA3 +chr2 98996638 98996817 CNGA3 +chr2 98999851 98999904 CNGA3 +chr2 99006121 99006237 CNGA3 +chr2 99008327 99008433 CNGA3 +chr2 99012307 99015057 CNGA3 +chr2 99061321 99061548 INPP4A +chr2 99135427 99135488 INPP4A +chr2 99136409 99136617 INPP4A +chr2 99137150 99137194 INPP4A +chr2 99149840 99149958 INPP4A +chr2 99152192 99152308 INPP4A +chr2 99152592 99152671 INPP4A +chr2 99154326 99154437 INPP4A +chr2 99155354 99155444 INPP4A +chr2 99155991 99156138 INPP4A +chr2 99160340 99160470 INPP4A +chr2 99162432 99162536 INPP4A +chr2 99163049 99163157 INPP4A +chr2 99165418 99165432 INPP4A +chr2 99169249 99169432 INPP4A +chr2 99170734 99170952 INPP4A +chr2 99172016 99172154 INPP4A +chr2 99175926 99175958 INPP4A +chr2 99179928 99180100 INPP4A +chr2 99181103 99181226 INPP4A +chr2 99182103 99182229 INPP4A +chr2 99182492 99182632 INPP4A +chr2 99185034 99185131 INPP4A +chr2 99189278 99189390 INPP4A +chr2 99193452 99193606 INPP4A +chr2 99198039 99198284 INPP4A +chr2 99203939 99207495 INPP4A +chr2 99215866 99217256 C2orf64 +chr2 99220571 99220654 C2orf64 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99786013 99786073 MITD1 +chr2 99787000 99787115 MITD1 +chr2 99787806 99787892 MITD1 +chr2 99787973 99788109 MITD1 +chr2 99790378 99790479 MITD1 +chr2 99797294 99797492 MITD1 +chr2 99797578 99797712 MRPL30 +chr2 99802640 99802717 MRPL30 +chr2 99804640 99804720 MRPL30 +chr2 99811214 99811360 MRPL30 +chr2 99811579 99811652 MRPL30 +chr2 99812036 99814088 MRPL30 +chr2 99858711 99858945 LYG2 +chr2 99860462 99860600 LYG2 +chr2 99861725 99861921 LYG2 +chr2 99863143 99863283 LYG2 +chr2 99870681 99870748 LYG2 +chr2 99871483 99871570 LYG2 +chr2 99900702 99900974 LYG1 +chr2 99901151 99901283 LYG1 +chr2 99907700 99907884 LYG1 +chr2 99908999 99909103 LYG1 +chr2 99912091 99912165 LYG1 +chr2 99914922 99915012 LYG1 +chr2 99917513 99917639 LYG1 +chr2 99935489 99936262 TXNDC9 +chr2 99938418 99938672 TXNDC9 +chr2 99943998 99944116 TXNDC9 +chr2 99949485 99949705 TXNDC9 +chr2 99952702 99952860 TXNDC9 +chr2 99953834 99954052 EIF5B +chr2 99976699 99976824 EIF5B +chr2 99976928 99977012 EIF5B +chr2 99977611 99978283 EIF5B +chr2 99980108 99980325 EIF5B +chr2 99980734 99980884 EIF5B +chr2 99984956 99985054 EIF5B +chr2 99985855 99985944 EIF5B +chr2 99988119 99988193 EIF5B +chr2 99992810 99993099 EIF5B +chr2 99995482 99995589 EIF5B +chr2 99995781 99995891 EIF5B +chr2 99998622 99998689 EIF5B +chr2 99999243 99999384 EIF5B diff --git a/tools/exomedepth/test-data/CNV_case_small.bam b/tools/exomedepth/test-data/CNV_case_small.bam new file mode 100644 index 00000000000..f6b80c5eae6 Binary files /dev/null and b/tools/exomedepth/test-data/CNV_case_small.bam differ diff --git a/tools/exomedepth/test-data/CNV_control_small.bam b/tools/exomedepth/test-data/CNV_control_small.bam new file mode 100644 index 00000000000..fdd680ac740 Binary files /dev/null and b/tools/exomedepth/test-data/CNV_control_small.bam differ