with import { }; with lib; let fetchlocal = path: pkgs.stdenv.mkDerivation { name = baseNameOf path; buildCommand = "ln -s ${path} $out"; }; fetchfq = attrs: types.tagFiletype (types.filetype.fq { }) (fetchlocal attrs); fetchfa = attrs: types.tagFiletype (types.filetype.fa { }) (fetchlocal attrs); ref = fetchfa ./examples/ref.fa; alignWithRG = rg: x: nameSort (bwa.align { inherit ref; flags = "-R'@RG\\tID:${rg}\\tSM:${rg}'"; } x); sort = sambamba.sort { }; nameSort = sambamba.sort { nameSort = true; }; flagstat = samtools.flagstat { }; check-fastqc = fastqc.check { }; check-fastp = fastp.check { }; callVariants = strelka.callSomatic { }; markdup = samtools.markdup { }; fixmate = samtools.fixmate { }; tnpair = { tumour = { name = "mysample1"; files = { input1 = fetchfq ./examples/sample1-1.fq; input2 = fetchfq ./examples/sample1-2.fq; }; }; normal = { name = "mysample2"; files = { input1 = fetchfq ./examples/sample2-1.fq; input2 = fetchfq ./examples/sample2-2.fq; }; }; }; processPair = { tumour, normal }: rec { alignments = mapAttrs (_: x: markdup (sort (fixmate (alignWithRG x.name x.files)))) { inherit normal tumour; }; variants = callVariants alignments; octopusSomatic = octopus.callSomatic { } { inherit (alignments) normal; tumours = [ alignments.tumour ]; }; glvariants = strelka.call { } (builtins.attrValues alignments); platypusVars = platypus.call { } (builtins.attrValues alignments); octopusVars = octopus.call { } (builtins.attrValues alignments); shards = map (x: nameSort (bwa.align { inherit ref; } x)) (shard.fastQPair 2 normal.files); }; tnpairResult = processPair tnpair; cnvkitResults = rec { cnvs = cnvkit.callCNV { } (with tnpairResult.alignments; { normals = [ normal ]; tumours = [ tumour ]; }); plot = cnvkit.scatterPlot { } cnvs.out1; }; alignments = { "bowtie-normal.bam" = bowtie.align { inherit ref; } tnpair.normal.files; "last.maf" = lastal.align { inherit ref; } tnpair.normal.files; "whisper.bam" = whisper.align { inherit ref; } tnpair.normal.files; "bwa-mem.bam" = bwa.mem { inherit ref; } tnpair.normal.files; "bwa-mem2.bam" = bwa.mem2 { inherit ref; } tnpair.normal.files; "minimap2-normal.bam" = minimap2.align { inherit ref; preset = "sr"; } tnpair.normal.files; "snap-normal.bam" = snap.align { inherit ref; } tnpair.normal.files; "${tnpair.tumour.name}.flagstat" = flagstat tnpairResult.alignments.tumour; "hisat2-normal.bam" = hisat2.align { inherit ref; } tnpair.normal.files; }; testNaming = linkOutputs { crai = samtools.index { } (samtools.view { outfmt = types.toCram; } tnpairResult.alignments.tumour); kallisto = kallisto.quant { inherit ref; } (attrValues tnpair.tumour.files); facets = facets.callCNV { } { vcf = tnpairResult.platypusVars; bams = with tnpairResult.alignments; [ normal tumour ]; }; cnvkit = cnvkitResults.cnvs; "cnvkit.pdf" = cnvkitResults.plot; "octopus.vcf" = tnpairResult.octopusVars; "octopus-somatic.vcf" = tnpairResult.octopusSomatic; strelka-indels = tnpairResult.variants.indels; "strelka.snvs.vcf" = tnpairResult.variants.snvs; "strelka.gl.vcf" = tnpairResult.glvariants; delly = delly.call { } (with tnpairResult.alignments; [ normal tumour ]); lumpy = lumpy.call { } (with tnpairResult.alignments; [ normal tumour ]); manta = manta.call { } (with tnpairResult.alignments; { normals = [ normal tumour ]; }); mantaTN = manta.call { } (with tnpairResult.alignments; { normals = [ normal ]; inherit tumour; }); mantaT = manta.call { } (with tnpairResult.alignments; { inherit tumour; }); gridss = gridss.callVariants { } (with tnpairResult.alignments; [ normal tumour ]); gridss2 = gridss.call (with tnpairResult.alignments; [ normal tumour ]); gridss3 = gridss.callAndAssemble (with tnpairResult.alignments; [ normal tumour ]); "merged-shards.bam" = samtools.merge { } tnpairResult.shards; "merged.bam" = samtools.merge { } [ tnpairResult.alignments.tumour tnpairResult.alignments.normal ]; "merged-namesorted.bam" = samtools.merge { } [ (nameSort tnpairResult.alignments.tumour) (nameSort tnpairResult.alignments.normal) ]; "${tnpair.tumour.name}.cram" = samtools.view { outfmt = types.toCram; } tnpairResult.alignments.tumour; "${tnpair.tumour.name}.fastqc.1" = check-fastqc tnpair.tumour.files.input1; "${tnpair.tumour.name}.fastp" = check-fastp tnpair.tumour.files; snver = snver.call { ploidy = 1; } tnpairResult.alignments; mosdepth = mosdepth.plot { } { inputs = mapAttrsToList (_: mosdepth.depth { }) tnpairResult.alignments; names = [ "seq1" "seq2" ]; }; xenomapper = xenomapper.allocate { } { primary = nameSort tnpairResult.alignments.tumour; secondary = nameSort tnpairResult.alignments.tumour; }; genmap = genmap.calcmap { } ref; inherit alignments; }; in testNaming