Add test for variant at right end of spanning tile.
[lightning.git] / slicenumpy.go
index e0d58c48917d4f16bb29fdc22a6be2d8ca7f4a96..1322b91544140df640bc1c53dcad133155df358f 100644 (file)
@@ -34,6 +34,8 @@ import (
        "golang.org/x/crypto/blake2b"
 )
 
+const annotationMaxTileSpan = 100
+
 type sliceNumpy struct {
        filter                filter
        threads               int
@@ -166,7 +168,7 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
 
        cmd.cgnames = nil
        var tagset [][]byte
-       DecodeLibrary(in0, strings.HasSuffix(infiles[0], ".gz"), func(ent *LibraryEntry) error {
+       err = DecodeLibrary(in0, strings.HasSuffix(infiles[0], ".gz"), func(ent *LibraryEntry) error {
                if len(ent.TagSet) > 0 {
                        tagset = ent.TagSet
                }
@@ -216,6 +218,10 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
        if err != nil {
                return 1
        }
+       if len(cmd.cgnames) == 0 {
+               err = fmt.Errorf("fatal: 0 cases, 0 controls, nothing to do")
+               return 1
+       }
        cmd.minCoverage = int(math.Ceil(cmd.filter.MinCoverage * float64(len(cmd.cgnames))))
 
        {
@@ -251,11 +257,14 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                seqname  string // chr1
                pos      int    // distance from start of chromosome to starttag
                tiledata []byte // acgtggcaa...
+               excluded bool   // true if excluded by regions file
+               nexttag  tagID  // tagID of following tile (-1 for last tag of chromosome)
        }
        isdup := map[tagID]bool{}
        reftile := map[tagID]*reftileinfo{}
        for seqname, cseq := range refseq {
                pos := 0
+               lastreftag := tagID(-1)
                for _, libref := range cseq {
                        if cmd.filter.MaxTag >= 0 && libref.Tag > tagID(cmd.filter.MaxTag) {
                                continue
@@ -292,7 +301,12 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                                        variant:  libref.Variant,
                                        tiledata: tiledata,
                                        pos:      pos,
+                                       nexttag:  -1,
                                }
+                               if lastreftag >= 0 {
+                                       reftile[lastreftag].nexttag = libref.Tag
+                               }
+                               lastreftag = libref.Tag
                        }
                        pos += len(tiledata) - taglen
                }
@@ -308,9 +322,9 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                }
                log.Printf("before applying mask, len(reftile) == %d", len(reftile))
                log.Printf("deleting reftile entries for regions outside %d intervals", mask.Len())
-               for tag, rt := range reftile {
+               for _, rt := range reftile {
                        if !mask.Check(strings.TrimPrefix(rt.seqname, "chr"), rt.pos, rt.pos+len(rt.tiledata)) {
-                               delete(reftile, tag)
+                               rt.excluded = true
                        }
                }
                log.Printf("after applying mask, len(reftile) == %d", len(reftile))
@@ -383,10 +397,22 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                                        if tv.Ref {
                                                continue
                                        }
+                                       // Skip tile with no
+                                       // corresponding ref tile, if
+                                       // mask is in play (we can't
+                                       // determine coordinates for
+                                       // these)
                                        if mask != nil && reftile[tv.Tag] == nil {
-                                               // Don't waste
-                                               // time/memory on
-                                               // masked-out tiles.
+                                               continue
+                                       }
+                                       // Skip tile whose
+                                       // corresponding ref tile is
+                                       // outside target regions --
+                                       // unless it's a potential
+                                       // spanning tile.
+                                       if mask != nil && reftile[tv.Tag].excluded &&
+                                               (int(tv.Tag+1) >= len(tagset) ||
+                                                       (bytes.HasSuffix(tv.Sequence, tagset[tv.Tag+1]) && reftile[tv.Tag+1] != nil && !reftile[tv.Tag+1].excluded)) {
                                                continue
                                        }
                                        if tv.Tag == cmd.debugTag {
@@ -523,7 +549,20 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                        for tag := tagstart; tag < tagend; tag++ {
                                rt := reftile[tag]
                                if rt == nil && mask != nil {
-                                       // Excluded by specified regions
+                                       // With no ref tile, we don't
+                                       // have coordinates to say
+                                       // this is in the desired
+                                       // regions -- so it's not.
+                                       // TODO: handle ref spanning
+                                       // tile case.
+                                       continue
+                               }
+                               if rt != nil && rt.excluded {
+                                       // TODO: don't skip yet --
+                                       // first check for spanning
+                                       // tile variants that
+                                       // intersect non-excluded ref
+                                       // tiles.
                                        continue
                                }
                                if cmd.filter.MaxTag >= 0 && tag > tagID(cmd.filter.MaxTag) {
@@ -537,7 +576,7 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                                        }
                                }
                                if *onehotChunked || *onehotSingle {
-                                       onehot, xrefs := cmd.tv2homhet(cgs, maxv, remap, tag, tagstart)
+                                       onehot, xrefs := cmd.tv2homhet(cgs, maxv, remap, tag, tagstart, seq)
                                        if tag == cmd.debugTag {
                                                log.WithFields(logrus.Fields{
                                                        "onehot": onehot,
@@ -550,6 +589,10 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                                if rt == nil {
                                        // Reference does not use any
                                        // variant of this tile
+                                       //
+                                       // TODO: diff against the
+                                       // relevant portion of the
+                                       // ref's spanning tile
                                        outcol++
                                        continue
                                }
@@ -566,11 +609,29 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                                        } else {
                                                done[v] = true
                                        }
-                                       if len(tv.Sequence) < taglen || !bytes.HasSuffix(rt.tiledata, tv.Sequence[len(tv.Sequence)-taglen:]) {
+                                       if len(tv.Sequence) < taglen {
+                                               continue
+                                       }
+                                       // if reftilestr doesn't end
+                                       // in the same tag as tv,
+                                       // extend reftilestr with
+                                       // following ref tiles until
+                                       // it does (up to an arbitrary
+                                       // sanity-check limit)
+                                       reftilestr := reftilestr
+                                       endtagstr := strings.ToUpper(string(tv.Sequence[len(tv.Sequence)-taglen:]))
+                                       for i, rt := 0, rt; i < annotationMaxTileSpan && !strings.HasSuffix(reftilestr, endtagstr) && rt.nexttag >= 0; i++ {
+                                               rt = reftile[rt.nexttag]
+                                               reftilestr += strings.ToUpper(string(rt.tiledata[taglen:]))
+                                       }
+                                       if mask != nil && !mask.Check(strings.TrimPrefix(rt.seqname, "chr"), rt.pos, rt.pos+len(reftilestr)) {
+                                               continue
+                                       }
+                                       if !strings.HasSuffix(reftilestr, endtagstr) {
                                                fmt.Fprintf(annow, "%d,%d,%d,,%s,%d,,,\n", tag, outcol, v, rt.seqname, rt.pos)
                                                continue
                                        }
-                                       if lendiff := len(rt.tiledata) - len(tv.Sequence); lendiff < -1000 || lendiff > 1000 {
+                                       if lendiff := len(reftilestr) - len(tv.Sequence); lendiff < -1000 || lendiff > 1000 {
                                                fmt.Fprintf(annow, "%d,%d,%d,,%s,%d,,,\n", tag, outcol, v, rt.seqname, rt.pos)
                                                continue
                                        }
@@ -689,7 +750,7 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                                                if cmd.filter.MaxTag >= 0 && tag > tagID(cmd.filter.MaxTag) {
                                                        break
                                                }
-                                               if mask != nil && reftile[tag] == nil {
+                                               if rt := reftile[tag]; rt == nil || rt.excluded {
                                                        continue
                                                }
                                                if v == 0 {
@@ -1001,7 +1062,7 @@ func (cmd *sliceNumpy) RunCommand(prog string, args []string, stdin io.Reader, s
                        return 1
                }
                fnm = fmt.Sprintf("%s/onehot-columns.npy", *outputDir)
-               err = writeNumpyInt32(fnm, onehotXref2int32(xrefs), 4, len(xrefs))
+               err = writeNumpyInt32(fnm, onehotXref2int32(xrefs), 5, len(xrefs))
                if err != nil {
                        return 1
                }
@@ -1270,7 +1331,7 @@ const onehotXrefSize = unsafe.Sizeof(onehotXref{})
 // variants of a single tile/tag#.
 //
 // Return nil if no tile variant passes Χ² filter.
-func (cmd *sliceNumpy) tv2homhet(cgs map[string]CompactGenome, maxv tileVariantID, remap []tileVariantID, tag, chunkstarttag tagID) ([][]int8, []onehotXref) {
+func (cmd *sliceNumpy) tv2homhet(cgs map[string]CompactGenome, maxv tileVariantID, remap []tileVariantID, tag, chunkstarttag tagID, seq map[tagID][]TileVariant) ([][]int8, []onehotXref) {
        if tag == cmd.debugTag {
                tv := make([]tileVariantID, len(cmd.cgnames)*2)
                for i, name := range cmd.cgnames {
@@ -1291,7 +1352,13 @@ func (cmd *sliceNumpy) tv2homhet(cgs map[string]CompactGenome, maxv tileVariantI
        tagoffset := tag - chunkstarttag
        coverage := 0
        for _, cg := range cgs {
-               if cg.Variants[tagoffset*2] > 0 && cg.Variants[tagoffset*2+1] > 0 {
+               alleles := 0
+               for _, v := range cg.Variants[tagoffset*2 : tagoffset*2+2] {
+                       if v > 0 && int(v) < len(seq[tag]) && len(seq[tag][v].Sequence) > 0 {
+                               alleles++
+                       }
+               }
+               if alleles == 2 {
                        coverage++
                }
        }
@@ -1355,7 +1422,7 @@ func bool2int8(in []bool) []int8 {
 // P-value row contains 1000000x actual p-value.
 func onehotXref2int32(xrefs []onehotXref) []int32 {
        xcols := len(xrefs)
-       xdata := make([]int32, 4*xcols)
+       xdata := make([]int32, 5*xcols)
        for i, xref := range xrefs {
                xdata[i] = int32(xref.tag)
                xdata[xcols+i] = int32(xref.variant)
@@ -1363,6 +1430,7 @@ func onehotXref2int32(xrefs []onehotXref) []int32 {
                        xdata[xcols*2+i] = 1
                }
                xdata[xcols*3+i] = int32(xref.pvalue * 1000000)
+               xdata[xcols*4+i] = int32(-math.Log10(xref.pvalue) * 1000000)
        }
        return xdata
 }