2b5eb866f050d964d8964ec5a84f7b63889cc6b1 angie Mon Jun 3 14:39:36 2013 -0700 New CGI, hgVai (Variant Annotation Integrator): simple checklist-styleUI by which user can select variants that they have uploaded; gene predictions to identify which part of a gene, if any, is hit by each variant; several additional sources of annotations/predictions e.g. dbNSFP scores and conserved elements/scores; and several filters to constrain output to the variants most likely to have a functional effect. Along with the new CGI, there are various lib bugfixes and improvements, a new hg/lib/tests/ testcase, and some test file changes to accomodate data updates to both knownGene and the pg* tables in knownGene. refs #6152 diff --git src/lib/annoStreamVcf.c src/lib/annoStreamVcf.c index 4e4b6d5..28856b1 100644 --- src/lib/annoStreamVcf.c +++ src/lib/annoStreamVcf.c @@ -1,183 +1,215 @@ /* annoStreamVcf -- subclass of annoStreamer for VCF files */ #include "annoStreamVcf.h" +#include "twoBit.h" #include "vcf.h" struct annoStreamVcf { struct annoStreamer streamer; // Parent class members & methods // Private members struct vcfFile *vcff; // VCF parsed header and file object struct vcfRecord *record; // Current parsed row of VCF (need this for chromEnd) char *asWords[VCF_NUM_COLS]; // Current row of VCF with genotypes squashed for autoSql struct dyString *dyGt; // Scratch space for squashing genotype columns + struct hash *chromNameHash; // Translate "chr"-less seq names if necessary. int numCols; // Number of columns in autoSql def of VCF. int numFileCols; // Number of columns in VCF file. boolean isTabix; // True if we are accessing compressed VCF via tabix index + int maxRecords; // Maximum number of annoRows to return. + int recordCount; // Number of annoRows we have returned so far. }; static void asvSetRegion(struct annoStreamer *vSelf, char *chrom, uint regionStart, uint regionEnd) /* Set region -- and free current sqlResult if there is one. */ { annoStreamerSetRegion(vSelf, chrom, regionStart, regionEnd); struct annoStreamVcf *self = (struct annoStreamVcf *)vSelf; if (self->isTabix) lineFileSetTabixRegion(self->vcff->lf, chrom, regionStart, regionEnd); } static char *asvGetHeader(struct annoStreamer *vSelf) /* Return VCF header (e.g. for use by formatter) */ { struct annoStreamVcf *self = (struct annoStreamVcf *)vSelf; return cloneString(self->vcff->headerString); } static char **nextRowRaw(struct annoStreamVcf *self) /* Get the next VCF record and put the row text into autoSql words. * Return pointer to self->asWords if we get a row, otherwise NULL. */ { char *words[self->numFileCols]; int wordCount; if ((wordCount = lineFileChop(self->vcff->lf, words)) <= 0) return NULL; lineFileExpectWords(self->vcff->lf, self->numFileCols, wordCount); int i; // First 8 columns are always in the VCF file: for (i = 0; i < 8; i++) { freeMem(self->asWords[i]); self->asWords[i] = cloneString(words[i]); } // Depending on whether VCF contains genotypes, number of file columns may be // smaller or larger than number of autoSql columns: if (self->vcff->genotypeCount > 0) { self->asWords[8] = words[8]; dyStringClear(self->dyGt); for (i = 0; i < self->vcff->genotypeCount; i++) { if (i > 0) dyStringAppendC(self->dyGt, '\t'); dyStringAppend(self->dyGt, words[9+i]); } self->asWords[9] = self->dyGt->string; } else { self->asWords[8] = ""; self->asWords[9] = ""; } self->record = vcfRecordFromRow(self->vcff, words); return self->asWords; } static char **nextRowUnfiltered(struct annoStreamVcf *self, char *minChrom, uint minEnd) /* Get the next VCF record and put the row text into autoSql words. * Return pointer to self->asWords if we get a row, otherwise NULL. */ { struct annoStreamer *sSelf = (struct annoStreamer *)self; char *regionChrom = sSelf->chrom; uint regionStart = sSelf->regionStart; uint regionEnd = sSelf->regionEnd; if (minChrom != NULL) { if (regionChrom == NULL) { regionChrom = minChrom; regionStart = minEnd; regionEnd = annoAssemblySeqSize(sSelf->assembly, minChrom); } else { - if (differentString(minChrom, regionChrom)) - errAbort("annoStreamVcf %s: nextRow minChrom='%s' but region chrom='%s'", - sSelf->name, minChrom, regionChrom); regionStart = max(regionStart, minEnd); } } char **words = nextRowRaw(self); if (minChrom != NULL && words != NULL) { if (self->isTabix && strcmp(words[0], minChrom) < 0) { uint regionEnd = sSelf->regionEnd; if (sSelf->chrom == NULL) regionEnd = annoAssemblySeqSize(sSelf->assembly, minChrom); lineFileSetTabixRegion(self->vcff->lf, minChrom, minEnd, regionEnd); } while (words != NULL && (strcmp(words[0], minChrom) < 0 || (sameString(words[0], minChrom) && self->record->chromEnd < minEnd))) words = nextRowRaw(self); } return words; } -static struct annoRow *asvNextRow(struct annoStreamer *vSelf, char *minChrom, uint minEnd, +static char *getProperChromName(struct annoStreamVcf *self, char *vcfChrom) +/* We tolerate chr-less chrom names in VCF and BAM ("1" for "chr1" etc); to avoid + * confusing the rest of the system, return the chr-ful version if it exists. */ +{ +char *name = hashFindVal(self->chromNameHash, vcfChrom); +if (name == NULL) + { + name = vcfChrom; + struct twoBitFile *tbf = self->streamer.assembly->tbf; + char buf[256]; + if (! twoBitIsSequence(tbf, vcfChrom)) + { + safef(buf, sizeof(buf), "chr%s", vcfChrom); + if (twoBitIsSequence(tbf, buf)) + name = buf; + } + name = lmCloneString(self->chromNameHash->lm, name); + hashAdd(self->chromNameHash, vcfChrom, name); + } +return name; +} + +static struct annoRow *asvNextRow(struct annoStreamer *sSelf, char *minChrom, uint minEnd, struct lm *callerLm) /* Return an annoRow encoding the next VCF record, or NULL if there are no more items. */ { -struct annoStreamVcf *self = (struct annoStreamVcf *)vSelf; +struct annoStreamVcf *self = (struct annoStreamVcf *)sSelf; +if (minChrom != NULL && sSelf->chrom != NULL && differentString(minChrom, sSelf->chrom)) + errAbort("annoStreamVcf %s: nextRow minChrom='%s' but region chrom='%s'", + sSelf->name, minChrom, sSelf->chrom); +if (self->maxRecords > 0 && self->recordCount >= self->maxRecords) + return NULL; char **words = nextRowUnfiltered(self, minChrom, minEnd); if (words == NULL) return NULL; // Skip past any left-join failures until we get a right-join failure, a passing row, or EOF. boolean rightFail = FALSE; -while (annoFilterRowFails(vSelf->filters, words, self->numCols, &rightFail)) +while (annoFilterRowFails(sSelf->filters, words, self->numCols, &rightFail)) { if (rightFail) break; words = nextRowUnfiltered(self, minChrom, minEnd); if (words == NULL) return NULL; } struct vcfRecord *rec = self->record; -return annoRowFromStringArray(rec->chrom, rec->chromStart, rec->chromEnd, +char *chrom = getProperChromName(self, rec->chrom); +self->recordCount++; +return annoRowFromStringArray(chrom, rec->chromStart, rec->chromEnd, rightFail, words, self->numCols, callerLm); } static void asvClose(struct annoStreamer **pVSelf) /* Close VCF file and free self. */ { if (pVSelf == NULL) return; struct annoStreamVcf *self = *(struct annoStreamVcf **)pVSelf; vcfFileFree(&(self->vcff)); // Don't free self->record -- currently it belongs to vcff's localMem dyStringFree(&(self->dyGt)); annoStreamerFree(pVSelf); } struct annoStreamer *annoStreamVcfNew(char *fileOrUrl, boolean isTabix, struct annoAssembly *aa, int maxRecords) /* Create an annoStreamer (subclass) object from a VCF file, which may * or may not have been compressed and indexed by tabix. */ { int maxErr = -1; // don't errAbort on VCF format warnings/errs struct vcfFile *vcff; if (isTabix) - vcff = vcfTabixFileMayOpen(fileOrUrl, NULL, 0, 0, maxErr, maxRecords); + vcff = vcfTabixFileMayOpen(fileOrUrl, NULL, 0, 0, maxErr, 0); else - vcff = vcfFileMayOpen(fileOrUrl, maxErr, maxRecords, FALSE); + vcff = vcfFileMayOpen(fileOrUrl, maxErr, 0, FALSE); if (vcff == NULL) errAbort("annoStreamVcfNew: unable to open VCF: '%s'", fileOrUrl); struct annoStreamVcf *self; AllocVar(self); struct annoStreamer *streamer = &(self->streamer); struct asObject *asObj = vcfAsObj(); annoStreamerInit(streamer, aa, asObj, fileOrUrl); streamer->rowType = arWords; streamer->setRegion = asvSetRegion; streamer->getHeader = asvGetHeader; streamer->nextRow = asvNextRow; streamer->close = asvClose; self->vcff = vcff; self->dyGt = dyStringNew(1024); +self->chromNameHash = hashNew(0); self->isTabix = isTabix; self->numCols = slCount(asObj->columnList); self->numFileCols = 8; if (vcff->genotypeCount > 0) self->numFileCols = 9 + vcff->genotypeCount; +self->maxRecords = maxRecords; return (struct annoStreamer *)self; }