19 "git.arvados.org/arvados.git/sdk/go/arvados"
20 "github.com/arvados/lightning/hgvs"
21 log "github.com/sirupsen/logrus"
24 type annotatecmd struct {
28 func (cmd *annotatecmd) RunCommand(prog string, args []string, stdin io.Reader, stdout, stderr io.Writer) int {
32 fmt.Fprintf(stderr, "%s\n", err)
35 flags := flag.NewFlagSet("", flag.ContinueOnError)
36 flags.SetOutput(stderr)
37 pprof := flags.String("pprof", "", "serve Go profile data at http://`[addr]:port`")
38 runlocal := flags.Bool("local", false, "run on local host (default: run in an arvados container)")
39 projectUUID := flags.String("project", "", "project `UUID` for output data")
40 priority := flags.Int("priority", 500, "container request priority")
41 inputFilename := flags.String("i", "-", "input `file` (library)")
42 outputFilename := flags.String("o", "-", "output `file`")
43 flags.BoolVar(&cmd.variantHash, "variant-hash", false, "output variant hash instead of index")
44 err = flags.Parse(args)
45 if err == flag.ErrHelp {
48 } else if err != nil {
54 log.Println(http.ListenAndServe(*pprof, nil))
58 if *outputFilename != "-" {
59 err = errors.New("cannot specify output file in container mode: not implemented")
62 runner := arvadosContainerRunner{
63 Name: "lightning annotate",
64 Client: arvados.NewClientFromEnv(),
65 ProjectUUID: *projectUUID,
70 err = runner.TranslatePaths(inputFilename)
74 runner.Args = []string{"annotate", "-local=true", fmt.Sprintf("-variant-hash=%v", cmd.variantHash), "-i", *inputFilename, "-o", "/mnt/output/tilevariants.tsv"}
76 output, err = runner.Run()
80 fmt.Fprintln(stdout, output+"/tilevariants.tsv")
84 var input io.ReadCloser
85 if *inputFilename == "-" {
86 input = ioutil.NopCloser(stdin)
88 input, err = os.Open(*inputFilename)
95 var output io.WriteCloser
96 if *outputFilename == "-" {
97 output = nopCloser{stdout}
99 output, err = os.OpenFile(*outputFilename, os.O_CREATE|os.O_WRONLY, 0666)
105 bufw := bufio.NewWriter(output)
107 err = cmd.exportTileDiffs(bufw, input)
126 func (cmd *annotatecmd) exportTileDiffs(outw io.Writer, librdr io.Reader) error {
127 var refs []CompactSequence
128 var tiles [][]TileVariant
131 err := DecodeLibrary(librdr, func(ent *LibraryEntry) error {
132 if len(ent.TagSet) > 0 {
134 return errors.New("error: not implemented: input has multiple tagsets")
137 taglen = len(tagset[0])
138 tiles = make([][]TileVariant, len(tagset))
140 for _, tv := range ent.TileVariants {
141 if tv.Tag >= tagID(len(tiles)) {
142 return fmt.Errorf("error: reading tile variant for tag %d but only %d tags were loaded", tv.Tag, len(tiles))
144 for len(tiles[tv.Tag]) <= int(tv.Variant) {
145 tiles[tv.Tag] = append(tiles[tv.Tag], TileVariant{})
147 tiles[tv.Tag][tv.Variant] = tv
149 for _, cs := range ent.CompactSequences {
150 refs = append(refs, cs)
157 tag2tagid := make(map[string]tagID, len(tagset))
158 for tagid, tagseq := range tagset {
159 tag2tagid[string(tagseq)] = tagID(tagid)
161 sort.Slice(refs, func(i, j int) bool { return refs[i].Name < refs[j].Name })
162 log.Infof("len(refs) %d", len(refs))
164 outch := make(chan string, 1)
165 var outwg sync.WaitGroup
170 for s := range outch {
171 io.WriteString(outw, s)
176 limiter := make(chan bool, runtime.NumCPU()+1)
177 var diffwg sync.WaitGroup
180 for _, refcs := range refs {
182 var seqnames []string
183 for seqname := range refcs.TileSequences {
184 seqnames = append(seqnames, seqname)
186 sort.Strings(seqnames)
187 for _, seqname := range seqnames {
190 // tilestart[123] is the index into refseq
191 // where the tile for tag 123 was placed.
192 tilestart := map[tagID]int{}
193 tileend := map[tagID]int{}
194 for _, libref := range refcs.TileSequences[seqname] {
195 if libref.Variant < 1 {
196 return fmt.Errorf("reference %q seq %q uses variant zero at tag %d", refcs.Name, seqname, libref.Tag)
198 seq := tiles[libref.Tag][libref.Variant].Sequence
199 if len(seq) < taglen {
200 return fmt.Errorf("reference %q seq %q uses tile %d variant %d with sequence len %d < taglen %d", refcs.Name, seqname, libref.Tag, libref.Variant, len(seq), taglen)
203 if len(refseq) == 0 {
206 tilestart[libref.Tag] = len(refseq) - overlap
207 refseq = append(refseq, seq[overlap:]...)
208 tileend[libref.Tag] = len(refseq)
210 log.Infof("seq %s len(refseq) %d len(tilestart) %d", seqname, len(refseq), len(tilestart))
211 for tag, tvs := range tiles {
213 refstart, ok := tilestart[tag]
215 // Tag didn't place on this
216 // reference sequence. (It
217 // might place on the same
218 // chromosome in a genome
219 // anyway, but we don't output
220 // the annotations that would
224 for variant, tv := range tvs {
225 variant, tv := variant, tv
229 if len(tv.Sequence) < taglen {
230 return fmt.Errorf("tilevar %d,%d has sequence len %d < taglen %d", tag, variant, len(tv.Sequence), taglen)
233 endtag := string(tv.Sequence[len(tv.Sequence)-taglen:])
234 if endtagid, ok := tag2tagid[endtag]; !ok {
235 // Tile variant doesn't end on a tag, so it can only place at the end of a chromosome.
236 refpart = refseq[refstart:]
237 log.Warnf("%x tilevar %d,%d endtag not in ref: %s", tv.Blake2b[:13], tag, variant, endtag)
238 } else if refendtagstart, ok := tilestart[endtagid]; !ok {
239 // Ref ends a chromsome with a (possibly very large) variant of this tile, but genomes with this tile don't.
240 // Give up. (TODO: something smarter)
241 log.Debugf("%x not annotating tilevar %d,%d because end tag %d is not in ref", tv.Blake2b[:13], tag, variant, endtagid)
244 // Non-terminal tile vs. non-terminal reference.
245 refpart = refseq[refstart : refendtagstart+taglen]
246 log.Tracef("\n%x tilevar %d,%d endtag %s endtagid %d refendtagstart %d", tv.Blake2b[:13], tag, variant, endtag, endtagid, refendtagstart)
248 if len(refpart) > 10000 {
249 log.Warnf("%x tilevar %d,%d skipping long diff, ref %s seq %s ref len %d", tv.Blake2b[:13], tag, variant, refcs.Name, seqname, len(refpart))
252 if len(tv.Sequence) > 10000 {
253 log.Warnf("%x tilevar %d,%d skipping long diff, ref %s seq %s variant len %d", tv.Blake2b[:13], tag, variant, refcs.Name, seqname, len(tv.Sequence))
256 // log.Printf("\n%x @ refstart %d \n< %s\n> %s\n", tv.Blake2b, refstart, refpart, tv.Sequence)
265 diffs, _ := hgvs.Diff(strings.ToUpper(string(refpart)), strings.ToUpper(string(tv.Sequence)), 0)
266 for _, diff := range diffs {
267 diff.Position += refstart
270 varid = fmt.Sprintf("%x", tv.Blake2b)[:13]
272 varid = strconv.Itoa(variant)
274 outch <- fmt.Sprintf("%d\t%s\t%s\t%s:g.%s\n", tag, varid, refcs.Name, seqname, diff.String())