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authorJustin Bedo <cu@cua0.org>2022-09-26 11:51:52 +1000
committerJustin Bedo <cu@cua0.org>2022-10-24 13:37:57 +1100
commit36a0a03eda2ec8cf9b1f5fea8c437b68638d1de5 (patch)
tree0c87e6f4c815d4cc2d0878acc21b2fe7d968321d
parent81cfa50e6b345942951b68eac0e184ea025f2ae4 (diff)
samtools.view,mosdepth.depth: add targets parameter
-rw-r--r--test-tnpair.nix159
-rw-r--r--tools/mosdepth-depth.nix51
-rw-r--r--tools/samtools-view.nix80
3 files changed, 190 insertions, 100 deletions
diff --git a/test-tnpair.nix b/test-tnpair.nix
index 195ac27..ac8d0bb 100644
--- a/test-tnpair.nix
+++ b/test-tnpair.nix
@@ -1,25 +1,32 @@
-with import <bionix> { };
-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);
+with import <bionix> {};
+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 = aligner: rg: x: nameSort (aligner { inherit ref; RG = { ID = rg; SM = 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 { };
+ alignWithRG = aligner: rg: x:
+ nameSort (aligner {
+ inherit ref;
+ RG = {
+ ID = rg;
+ SM = 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 = {
@@ -38,42 +45,56 @@ let
};
};
- processPair = { tumour, normal }: rec {
- alignments = mapAttrs (_: x: markdup (sort (fixmate (alignWithRG bwa.align x.name x.files)))) { inherit normal tumour; };
- bowtie-alignments = mapAttrs (_: x: markdup (sort (fixmate (alignWithRG bowtie.align x.name x.files)))) { inherit normal tumour; };
- bwa2-alignments = mapAttrs (_: x: markdup (sort (fixmate (alignWithRG bwa.mem2 x.name x.files)))) { inherit normal tumour; };
+ processPair = {
+ tumour,
+ normal,
+ }: rec {
+ alignments = mapAttrs (_: x: markdup (sort (fixmate (alignWithRG bwa.align x.name x.files)))) {inherit normal tumour;};
+ bowtie-alignments = mapAttrs (_: x: markdup (sort (fixmate (alignWithRG bowtie.align x.name x.files)))) {inherit normal tumour;};
+ bwa2-alignments = mapAttrs (_: x: markdup (sort (fixmate (alignWithRG bwa.mem2 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);
+ 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;
+ 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;
- "subread.bam" = subread.align { inherit ref; } tnpair.normal.files;
- "last.maf" = lastal.align { inherit ref; } tnpair.normal.files.input1;
- "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;
+ "bowtie-normal.bam" = bowtie.align {inherit ref;} tnpair.normal.files;
+ "subread.bam" = subread.align {inherit ref;} tnpair.normal.files;
+ "last.maf" = lastal.align {inherit ref;} tnpair.normal.files.input1;
+ "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;
+ "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; } (with tnpairResult.alignments; [ normal tumour ]);
+ 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;} (with tnpairResult.alignments; [normal tumour]);
cnvkit = cnvkitResults.cnvs;
"cnvkit.pdf" = cnvkitResults.plot;
"octopus.vcf" = tnpairResult.octopusVars;
@@ -81,27 +102,45 @@ let
strelka-indels = tnpairResult.variants.indels;
"strelka.snvs.vcf" = tnpairResult.variants.snvs;
"strelka.gl.vcf" = tnpairResult.glvariants;
- delly = delly.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 ]);
- gridssSomatic = gridss.filterSomatic { normalName = "mysample2"; } (gridss.call (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) ];
- "${tnpair.tumour.name}.cram" = samtools.view { outfmt = types.toCram; } tnpairResult.alignments.tumour;
+ delly = delly.call {} (with tnpairResult.alignments; [normal tumour]);
+ manta = manta.call {} (with tnpairResult.alignments; {normals = [normal tumour];});
+ mantaTN = manta.call {} (with tnpairResult.alignments; {
+ normals = [normal];
+ inherit tumour;
+ });
+ mantaT = manta.call {} (with tnpairResult.alignments; {inherit tumour;});
+ gridss = gridss.callVariants {} (with tnpairResult.alignments; [normal tumour]);
+ gridss2 = gridss.call (with tnpairResult.alignments; [normal tumour]);
+ gridss3 = gridss.callAndAssemble (with tnpairResult.alignments; [normal tumour]);
+ gridssSomatic = gridss.filterSomatic {normalName = "mysample2";} (gridss.call (with tnpairResult.alignments; [normal tumour]));
+ "merged-shards.bam" = samtools.merge {} tnpairResult.shards;
+ "merged.bam" = samtools.merge {} [tnpairResult.alignments.tumour tnpairResult.alignments.normal];
+ "merged-namesorted.bam" = samtools.merge {} [(nameSort tnpairResult.alignments.tumour) (nameSort tnpairResult.alignments.normal)];
+ "${tnpair.tumour.name}.cram" = samtools.view {outfmt = types.toCram;} tnpairResult.alignments.tumour;
+ "${tnpair.tumour.name}-targeted.cram" =
+ samtools.view {
+ outfmt = types.toCram;
+ targets = "abcd\t10\t100";
+ }
+ tnpairResult.alignments.tumour;
"${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; };
+ snver = snver.call {ploidy = 1;} tnpairResult.alignments;
+ mosdepth = mosdepth.plot {} {
+ inputs = mapAttrsToList (_: mosdepth.depth {}) tnpairResult.alignments;
+ names = ["seq1" "seq2"];
+ };
+ mosdepth-targeted = mosdepth.plot {} {
+ inputs = mapAttrsToList (_: mosdepth.depth {targets = ["abc\t10\t100"];}) tnpairResult.alignments;
+ names = ["seq1" "seq2"];
+ };
+ xenomapper = xenomapper.allocate {} {
+ primary = nameSort tnpairResult.alignments.tumour;
+ secondary = nameSort tnpairResult.alignments.tumour;
+ };
quip = with quip; unquip {} (quip {} tnpairResult.alignments.tumour);
- genmap = genmap.calcmap { } ref;
+ genmap = genmap.calcmap {} ref;
inherit alignments;
};
-
in
-testNaming
+ testNaming
diff --git a/tools/mosdepth-depth.nix b/tools/mosdepth-depth.nix
index 2a72989..4627071 100644
--- a/tools/mosdepth-depth.nix
+++ b/tools/mosdepth-depth.nix
@@ -1,21 +1,36 @@
-{ bionix
-, indexAttrs ? { }
-, flags ? null
+{
+ bionix,
+ indexAttrs ? {},
+ targets ? null,
+ flags ? null,
}:
-
with bionix;
with lib;
-
-input:
-
-stage {
- name = "mosdepth-depth";
- buildInputs = with pkgs; [ mosdepth ];
- buildCommand = ''
- mkdir $out
- ln -s ${input} input.bam
- ln -s ${bionix.samtools.index indexAttrs input} input.bam.bai
- mosdepth -t $NIX_BUILD_CORES ${optionalString (flags != null) flags} $out/out input.bam
- '';
- passthru.multicore = true;
-}
+ input: let
+ handleTarget = x: let
+ type = builtins.typeOf x;
+ handler = handlers."${type}" or (builtins.throw "mosdepth-depth:unhandled target type:${type}");
+ handlers = {
+ string = handleTarget [x];
+ list = let
+ file = pkgs.writeText "target.bed" (concatStringsSep "\n" x);
+ in "-b ${file}";
+ path = "-b ${x}";
+ set = "-b ${x}";
+ };
+ in
+ handler;
+ in
+ stage {
+ name = "mosdepth-depth";
+ buildInputs = with pkgs; [mosdepth];
+ buildCommand = ''
+ mkdir $out
+ ln -s ${input} input.bam
+ ln -s ${bionix.samtools.index indexAttrs input} input.bam.bai
+ mosdepth -t $NIX_BUILD_CORES \
+ ${optionalString (targets != null) (handleTarget targets)} \
+ ${optionalString (flags != null) flags} $out/out input.bam
+ '';
+ passthru.multicore = true;
+ }
diff --git a/tools/samtools-view.nix b/tools/samtools-view.nix
index 4d2bdc7..4966b13 100644
--- a/tools/samtools-view.nix
+++ b/tools/samtools-view.nix
@@ -1,27 +1,63 @@
-{ bionix
-, nameSort ? false
-, flags ? null
-, outfmt ? null
-}:
-
-input:
-
+{
+ bionix,
+ nameSort ? false,
+ flags ? null,
+ outfmt ? null,
+ targets ? null,
+}: input:
with bionix;
with lib;
with types;
+assert (matchFiletype "samtools-view" {
+ bam = _: true;
+ sam = _: true;
+ cram = _: true;
+ }
+ input); let
+ handleTarget = x: let
+ type = builtins.typeOf x;
+ handler = handlers."${type}" or (builtins.throw "samtools-view:unhandled target type:${type}");
+ handlers = {
+ string = handleTarget [x];
+ list = let
+ file = pkgs.writeText "target.bed" (concatStringsSep "\n" x);
+ in "--target-file ${file}";
+ path = "--target-file ${x}";
+ set = "--target-file ${x}";
+ };
+ in
+ handler;
-assert (matchFiletype "samtools-view" { bam = _: true; sam = _: true; cram = _: true; } input);
-
-let
- outfmtR = if outfmt != null then (if builtins.typeOf outfmt == "string" then { "bam" = toBam; "cram" = toCram; "sam" = toSam; }."${outfmt}" else outfmt) input else input.filetype;
- fa = ref: matchFiletype "samtools-view-ref" { fa = _: ref; } ref;
- outfmtFlags = matchFiletype "samtools-view-outfmt" { bam = _: "-O BAM"; sam = _: "-O SAM"; cram = x: "-O CRAM -T ${fa x.ref}"; } { filetype = outfmtR; };
+ outfmtR =
+ if outfmt != null
+ then
+ (
+ if builtins.typeOf outfmt == "string"
+ then
+ {
+ "bam" = toBam;
+ "cram" = toCram;
+ "sam" = toSam;
+ }
+ ."${outfmt}"
+ else outfmt
+ )
+ input
+ else input.filetype;
+ fa = ref: matchFiletype "samtools-view-ref" {fa = _: ref;} ref;
+ outfmtFlags = matchFiletype "samtools-view-outfmt" {
+ bam = _: "-O BAM";
+ sam = _: "-O SAM";
+ cram = x: "-O CRAM -T ${fa x.ref}";
+ } {filetype = outfmtR;};
in
-stage {
- name = "samtools-view";
- buildInputs = with pkgs; [ samtools ];
- buildCommand = ''
- samtools view ${outfmtFlags} ${optionalString (flags != null) flags} ${input} > $out
- '';
- passthru.filetype = outfmtR;
-}
+ stage {
+ name = "samtools-view";
+ buildInputs = with pkgs; [samtools];
+ buildCommand = ''
+ samtools view \
+ ${optionalString (targets != null) (handleTarget targets)} \
+ ${outfmtFlags} ${optionalString (flags != null) flags} ${input} > $out
+ '';
+ passthru.filetype = outfmtR;
+ }