X-Git-Url: https://git.arvados.org/lightning.git/blobdiff_plain/3144aedf02bc1c241ac0666bf01905814eeed71a..3364ff0d5ecd6a0f820281625d16ef13f8521160:/export.go diff --git a/export.go b/export.go index a37ec725bf..b8590b973f 100644 --- a/export.go +++ b/export.go @@ -1,4 +1,4 @@ -package main +package lightning import ( "bufio" @@ -11,6 +11,8 @@ import ( "net/http" _ "net/http/pprof" "os" + "path/filepath" + "runtime" "sort" "strings" "sync" @@ -22,21 +24,26 @@ import ( ) type outputFormat struct { - Print func(out io.Writer, seqname string, varslice []hgvs.Variant) - PadLeft bool + Filename string + Print func(out io.Writer, seqname string, varslice []hgvs.Variant) + PadLeft bool } var ( outputFormats = map[string]outputFormat{ - "hgvs": outputFormatHGVS, - "vcf": outputFormatVCF, + "hgvs-onehot": outputFormatHGVSOneHot, + "hgvs": outputFormatHGVS, + "vcf": outputFormatVCF, } - outputFormatHGVS = outputFormat{Print: printHGVS} - outputFormatVCF = outputFormat{Print: printVCF, PadLeft: true} + outputFormatHGVS = outputFormat{Filename: "out.csv", Print: printHGVS} + outputFormatHGVSOneHot = outputFormat{Filename: "out.csv", Print: printHGVSOneHot} + outputFormatVCF = outputFormat{Filename: "out.vcf", Print: printVCF, PadLeft: true} ) type exporter struct { - outputFormat outputFormat + outputFormat outputFormat + outputPerChrom bool + maxTileSize int } func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, stdout, stderr io.Writer) int { @@ -49,15 +56,18 @@ func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, std flags := flag.NewFlagSet("", flag.ContinueOnError) flags.SetOutput(stderr) pprof := flags.String("pprof", "", "serve Go profile data at http://`[addr]:port`") + pprofdir := flags.String("pprof-dir", "", "write Go profile data to `directory` periodically") runlocal := flags.Bool("local", false, "run on local host (default: run in an arvados container)") projectUUID := flags.String("project", "", "project `UUID` for output data") priority := flags.Int("priority", 500, "container request priority") refname := flags.String("ref", "", "reference genome `name`") - inputFilename := flags.String("i", "-", "input `file` (library)") - outputFilename := flags.String("o", "-", "output `file`") + inputDir := flags.String("input-dir", ".", "input `directory`") + outputDir := flags.String("output-dir", ".", "output `directory`") outputFormatStr := flags.String("output-format", "hgvs", "output `format`: hgvs or vcf") outputBed := flags.String("output-bed", "", "also output bed `file`") - pick := flags.String("pick", "", "`name` of single genome to export") + flags.BoolVar(&cmd.outputPerChrom, "output-per-chromosome", true, "output one file per chromosome") + labelsFilename := flags.String("output-labels", "", "also output genome labels csv `file`") + flags.IntVar(&cmd.maxTileSize, "max-tile-size", 50000, "don't try to make annotations for tiles bigger than given `size`") err = flags.Parse(args) if err == flag.ErrHelp { err = nil @@ -65,6 +75,10 @@ func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, std } else if err != nil { return 2 } + if flag.NArg() > 0 { + err = fmt.Errorf("extra unparsed command line arguments: %q", flag.Args()) + return 2 + } if f, ok := outputFormats[*outputFormatStr]; !ok { err = fmt.Errorf("invalid output format %q", *outputFormatStr) @@ -78,21 +92,24 @@ func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, std log.Println(http.ListenAndServe(*pprof, nil)) }() } + if *pprofdir != "" { + go writeProfilesPeriodically(*pprofdir) + } if !*runlocal { - if *outputFilename != "-" { - err = errors.New("cannot specify output file in container mode: not implemented") + if *outputDir != "." { + err = errors.New("cannot specify output directory in container mode: not implemented") return 1 } runner := arvadosContainerRunner{ Name: "lightning export", Client: arvados.NewClientFromEnv(), ProjectUUID: *projectUUID, - RAM: 240000000000, - VCPUs: 32, + RAM: 700000000000, + VCPUs: 64, Priority: *priority, } - err = runner.TranslatePaths(inputFilename) + err = runner.TranslatePaths(inputDir) if err != nil { return 1 } @@ -103,7 +120,18 @@ func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, std } *outputBed = "/mnt/output/" + *outputBed } - runner.Args = []string{"export", "-local=true", "-pick", *pick, "-ref", *refname, "-output-format", *outputFormatStr, "-output-bed", *outputBed, "-i", *inputFilename, "-o", "/mnt/output/export.csv"} + runner.Args = []string{"export", "-local=true", + "-pprof", ":6000", + "-pprof-dir", "/mnt/output", + "-ref", *refname, + "-output-format", *outputFormatStr, + "-output-bed", *outputBed, + "-output-labels", "/mnt/output/labels.csv", + "-output-per-chromosome=" + fmt.Sprintf("%v", cmd.outputPerChrom), + "-max-tile-size", fmt.Sprintf("%d", cmd.maxTileSize), + "-input-dir", *inputDir, + "-output-dir", "/mnt/output", + } var output string output, err = runner.Run() if err != nil { @@ -113,41 +141,16 @@ func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, std return 0 } - input, err := os.Open(*inputFilename) - if err != nil { - return 1 - } - defer input.Close() - - // Error out early if seeking doesn't work on the input file. - _, err = input.Seek(0, io.SeekEnd) - if err != nil { - return 1 - } - _, err = input.Seek(0, io.SeekStart) - if err != nil { - return 1 - } - - var mtx sync.Mutex var cgs []CompactGenome - tilelib := tileLibrary{ - includeNoCalls: true, + tilelib := &tileLibrary{ + retainNoCalls: true, + retainTileSequences: true, + compactGenomes: map[string][]tileVariantID{}, } - err = tilelib.LoadGob(context.Background(), input, func(cg CompactGenome) { - if *pick != "" && *pick != cg.Name { - return - } - log.Debugf("export: pick %q", cg.Name) - mtx.Lock() - defer mtx.Unlock() - cgs = append(cgs, cg) - }) + err = tilelib.LoadDir(context.Background(), *inputDir, nil) if err != nil { return 1 } - sort.Slice(cgs, func(i, j int) bool { return cgs[i].Name < cgs[j].Name }) - log.Printf("export: pick %q => %d genomes", *pick, len(cgs)) refseq, ok := tilelib.refseqs[*refname] if !ok { @@ -160,22 +163,31 @@ func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, std return 1 } - _, err = input.Seek(0, io.SeekStart) - if err != nil { - return 1 + names := cgnames(tilelib) + for _, name := range names { + cgs = append(cgs, CompactGenome{Name: name, Variants: tilelib.compactGenomes[name]}) } - - var output io.WriteCloser - if *outputFilename == "-" { - output = nopCloser{stdout} - } else { - output, err = os.OpenFile(*outputFilename, os.O_CREATE|os.O_WRONLY, 0666) + if *labelsFilename != "" { + log.Infof("writing labels to %s", *labelsFilename) + var f *os.File + f, err = os.OpenFile(*labelsFilename, os.O_CREATE|os.O_WRONLY, 0777) + if err != nil { + return 1 + } + defer f.Close() + for i, name := range names { + _, err = fmt.Fprintf(f, "%d,%q,%q\n", i, trimFilenameForLabel(name), cmd.outputFormat.Filename) + if err != nil { + err = fmt.Errorf("write %s: %w", *labelsFilename, err) + return 1 + } + } + err = f.Close() if err != nil { + err = fmt.Errorf("close %s: %w", *labelsFilename, err) return 1 } - defer output.Close() } - bufw := bufio.NewWriter(output) var bedout *os.File var bedbufw *bufio.Writer @@ -188,15 +200,7 @@ func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, std bedbufw = bufio.NewWriter(bedout) } - err = cmd.export(bufw, bedout, input, tilelib.taglib.keylen, refseq, cgs) - if err != nil { - return 1 - } - err = bufw.Flush() - if err != nil { - return 1 - } - err = output.Close() + err = cmd.export(*outputDir, bedout, tilelib, refseq, cgs) if err != nil { return 1 } @@ -210,58 +214,22 @@ func (cmd *exporter) RunCommand(prog string, args []string, stdin io.Reader, std return 1 } } - err = input.Close() - if err != nil { - return 1 - } return 0 } -func (cmd *exporter) export(out, bedout io.Writer, librdr io.Reader, taglen int, refseq map[string][]tileLibRef, cgs []CompactGenome) error { - need := map[tileLibRef]bool{} +func (cmd *exporter) export(outdir string, bedout io.Writer, tilelib *tileLibrary, refseq map[string][]tileLibRef, cgs []CompactGenome) error { var seqnames []string + var missing []tileLibRef for seqname, librefs := range refseq { seqnames = append(seqnames, seqname) for _, libref := range librefs { - if libref.Variant != 0 { - need[libref] = true + if libref.Variant != 0 && tilelib.TileVariantSequence(libref) == nil { + missing = append(missing, libref) } } } sort.Strings(seqnames) - for _, cg := range cgs { - for i, variant := range cg.Variants { - if variant == 0 { - continue - } - libref := tileLibRef{Tag: tagID(i / 2), Variant: variant} - need[libref] = true - } - } - - log.Infof("export: loading %d tile variants", len(need)) - tileVariant := map[tileLibRef]TileVariant{} - err := DecodeLibrary(librdr, func(ent *LibraryEntry) error { - for _, tv := range ent.TileVariants { - libref := tileLibRef{Tag: tv.Tag, Variant: tv.Variant} - if need[libref] { - tileVariant[libref] = tv - } - } - return nil - }) - if err != nil { - return err - } - - log.Infof("export: loaded %d tile variants", len(tileVariant)) - var missing []tileLibRef - for libref := range need { - if _, ok := tileVariant[libref]; !ok { - missing = append(missing, libref) - } - } if len(missing) > 0 { if limit := 100; len(missing) > limit { log.Warnf("first %d missing tiles: %v", limit, missing[:limit]) @@ -271,56 +239,85 @@ func (cmd *exporter) export(out, bedout io.Writer, librdr io.Reader, taglen int, return fmt.Errorf("%d needed tiles are missing from library", len(missing)) } - log.Infof("assembling %d sequences concurrently", len(seqnames)) - var wg sync.WaitGroup - outbuf := make([]bytes.Buffer, len(seqnames)) - bedbuf := make([]bytes.Buffer, len(seqnames)) - for seqidx, seqname := range seqnames { - seqname := seqname - outbuf := &outbuf[seqidx] - bedbuf := &bedbuf[seqidx] - if bedout == nil { - bedbuf = nil + outw := make([]io.WriteCloser, len(seqnames)) + bedw := make([]io.WriteCloser, len(seqnames)) + + var merges sync.WaitGroup + merge := func(dst io.Writer, src []io.WriteCloser, label string) { + var mtx sync.Mutex + for i, seqname := range seqnames { + pr, pw := io.Pipe() + src[i] = pw + merges.Add(1) + seqname := seqname + go func() { + defer merges.Done() + log.Infof("writing %s %s", seqname, label) + scanner := bufio.NewScanner(pr) + for scanner.Scan() { + mtx.Lock() + dst.Write(scanner.Bytes()) + dst.Write([]byte{'\n'}) + mtx.Unlock() + } + log.Infof("writing %s %s done", seqname, label) + }() } - // TODO: limit number of goroutines and unflushed bufs to ncpus - wg.Add(1) - go func() { - defer wg.Done() - cmd.exportSeq(outbuf, bedbuf, taglen, seqname, refseq[seqname], tileVariant, cgs) - log.Infof("assembled %q to outbuf %d bedbuf %d", seqname, outbuf.Len(), bedbuf.Len()) - }() } - wg.Wait() - - wg.Add(1) - go func() { - defer wg.Done() + if cmd.outputPerChrom { for i, seqname := range seqnames { - log.Infof("writing outbuf %s", seqname) - io.Copy(out, &outbuf[i]) + f, err := os.OpenFile(filepath.Join(outdir, strings.Replace(cmd.outputFormat.Filename, ".", "."+seqname+".", 1)), os.O_CREATE|os.O_WRONLY, 0666) + if err != nil { + return err + } + defer f.Close() + log.Infof("writing %q", f.Name()) + outw[i] = f } - }() + } else { + fnm := filepath.Join(outdir, cmd.outputFormat.Filename) + log.Infof("writing %q", fnm) + out, err := os.OpenFile(fnm, os.O_CREATE|os.O_WRONLY, 0666) + if err != nil { + return err + } + defer out.Close() + merge(out, outw, "output") + } if bedout != nil { - wg.Add(1) + merge(bedout, bedw, "bed") + } + + throttle := throttle{Max: runtime.NumCPU()} + log.Infof("assembling %d sequences in %d goroutines", len(seqnames), throttle.Max) + for seqidx, seqname := range seqnames { + seqidx, seqname := seqidx, seqname + outw := outw[seqidx] + bedw := bedw[seqidx] + throttle.Acquire() go func() { - defer wg.Done() - for i, seqname := range seqnames { - log.Infof("writing bedbuf %s", seqname) - io.Copy(bedout, &bedbuf[i]) + defer throttle.Release() + if bedw != nil { + defer bedw.Close() } + defer outw.Close() + outwb := bufio.NewWriter(outw) + defer outwb.Flush() + cmd.exportSeq(outwb, bedw, tilelib.taglib.keylen, seqname, refseq[seqname], tilelib, cgs) }() } - wg.Wait() + + merges.Wait() return nil } // Align genome tiles to reference tiles, write diffs to outw, and (if // bedw is not nil) write tile coverage to bedw. -func (cmd *exporter) exportSeq(outw, bedw io.Writer, taglen int, seqname string, reftiles []tileLibRef, tileVariant map[tileLibRef]TileVariant, cgs []CompactGenome) { +func (cmd *exporter) exportSeq(outw, bedw io.Writer, taglen int, seqname string, reftiles []tileLibRef, tilelib *tileLibrary, cgs []CompactGenome) { refpos := 0 variantAt := map[int][]hgvs.Variant{} // variantAt[chromOffset][genomeIndex*2+phase] for refstep, libref := range reftiles { - reftile := tileVariant[libref] + refseq := tilelib.TileVariantSequence(libref) tagcoverage := 0 // number of times the start tag was found in genomes -- max is len(cgs)*2 for cgidx, cg := range cgs { for phase := 0; phase < 2; phase++ { @@ -335,27 +332,35 @@ func (cmd *exporter) exportSeq(outw, bedw io.Writer, taglen int, seqname string, if variant == libref.Variant { continue } - genometile := tileVariant[tileLibRef{Tag: libref.Tag, Variant: variant}] - refSequence := reftile.Sequence + genomeseq := tilelib.TileVariantSequence(tileLibRef{Tag: libref.Tag, Variant: variant}) + if len(genomeseq) == 0 { + // Hash is known but sequence + // is not, e.g., retainNoCalls + // was false during import + continue + } + if len(genomeseq) > cmd.maxTileSize { + continue + } + refSequence := refseq // If needed, extend the reference // sequence up to the tag at the end - // of the genometile sequence. + // of the genomeseq sequence. refstepend := refstep + 1 - for refstepend < len(reftiles) && len(refSequence) >= taglen && !bytes.EqualFold(refSequence[len(refSequence)-taglen:], genometile.Sequence[len(genometile.Sequence)-taglen:]) { - if &refSequence[0] == &reftile.Sequence[0] { + for refstepend < len(reftiles) && len(refSequence) >= taglen && !bytes.EqualFold(refSequence[len(refSequence)-taglen:], genomeseq[len(genomeseq)-taglen:]) && len(refSequence) <= cmd.maxTileSize { + if &refSequence[0] == &refseq[0] { refSequence = append([]byte(nil), refSequence...) } - refSequence = append(refSequence, tileVariant[reftiles[refstepend]].Sequence...) + refSequence = append(refSequence, tilelib.TileVariantSequence(reftiles[refstepend])...) refstepend++ } // (TODO: handle no-calls) - vars, _ := hgvs.Diff(strings.ToUpper(string(refSequence)), strings.ToUpper(string(genometile.Sequence)), time.Second) + vars, _ := hgvs.Diff(strings.ToUpper(string(refSequence)), strings.ToUpper(string(genomeseq)), time.Second) for _, v := range vars { if cmd.outputFormat.PadLeft { v = v.PadLeft() } v.Position += refpos - log.Debugf("%s seq %s phase %d tag %d tile diff %s\n", cg.Name, seqname, phase, libref.Tag, v.String()) varslice := variantAt[v.Position] if varslice == nil { varslice = make([]hgvs.Variant, len(cgs)*2) @@ -365,7 +370,7 @@ func (cmd *exporter) exportSeq(outw, bedw io.Writer, taglen int, seqname string, } } } - refpos += len(reftile.Sequence) - taglen + refpos += len(refseq) - taglen // Flush entries from variantAt that are behind // refpos. Flush all entries if this is the last @@ -388,8 +393,8 @@ func (cmd *exporter) exportSeq(outw, bedw io.Writer, taglen int, seqname string, } cmd.outputFormat.Print(outw, seqname, varslice) } - if bedw != nil && len(reftile.Sequence) > 0 { - tilestart := refpos - len(reftile.Sequence) + taglen + if bedw != nil && len(refseq) > 0 { + tilestart := refpos - len(refseq) + taglen tileend := refpos if !lastrefstep { tileend += taglen @@ -399,8 +404,13 @@ func (cmd *exporter) exportSeq(outw, bedw io.Writer, taglen int, seqname string, thickstart = 0 } thickend := refpos + // coverage score, 0 to 1000 - score := 1000 * tagcoverage / len(cgs) / 2 + score := 1000 + if len(cgs) > 0 { + score = 1000 * tagcoverage / len(cgs) / 2 + } + fmt.Fprintf(bedw, "%s %d %d %d %d . %d %d\n", seqname, tilestart, tileend, libref.Tag, @@ -466,3 +476,31 @@ func printHGVS(out io.Writer, seqname string, varslice []hgvs.Variant) { } out.Write([]byte{'\n'}) } + +func printHGVSOneHot(out io.Writer, seqname string, varslice []hgvs.Variant) { + vars := map[hgvs.Variant]bool{} + for _, v := range varslice { + if v.Ref != v.New { + vars[v] = true + } + } + + // sort variants to ensure output is deterministic + sorted := make([]hgvs.Variant, 0, len(vars)) + for v := range vars { + sorted = append(sorted, v) + } + sort.Slice(sorted, func(a, b int) bool { return hgvs.Less(sorted[a], sorted[b]) }) + + for _, v := range sorted { + fmt.Fprintf(out, "%s.%s", seqname, v.String()) + for i := 0; i < len(varslice); i += 2 { + if varslice[i] == v || varslice[i+1] == v { + out.Write([]byte("\t1")) + } else { + out.Write([]byte("\t0")) + } + } + out.Write([]byte{'\n'}) + } +}