use of com.github.lindenb.jvarkit.samtools.util.SimplePosition in project jvarkit by lindenb.
the class Biostar81455 method doWork.
@Override
public int doWork(final List<String> args) {
BufferedReader r = null;
String line;
PrintStream out = null;
final CharSplitter tab = CharSplitter.TAB;
try {
try (final GtfReader gtfReader = new GtfReader(this.gtfPath)) {
gtfReader.getAllGenes().stream().forEach(G -> this.geneMap.put(new Interval(G), G));
}
} catch (final Throwable err) {
LOG.error(err);
return -1;
} finally {
CloserUtil.close(r);
}
final ContigNameConverter contigNameConverter = ContigNameConverter.fromIntervalTreeMap(this.geneMap);
try {
r = super.openBufferedReader(oneFileOrNull(args));
out = openPathOrStdoutAsPrintStream(this.outputFile);
while ((line = r.readLine()) != null) {
if (line.startsWith("#")) {
out.println(line);
continue;
}
boolean found = false;
final String[] tokens = tab.split(line);
final int pos1 = Integer.parseInt(tokens[1]) + (this.one_based ? 0 : 1);
final String convertCtg = contigNameConverter.apply(tokens[0]);
if (convertCtg == null) {
LOG.error("CANNOT FIND contig " + tokens[0]);
out.println("##UNKNOWN CONTIG " + line);
continue;
}
final SimplePosition position = new SimplePosition(convertCtg, pos1);
final List<Transcript> transcripts = this.geneMap.getOverlapping(position).stream().flatMap(G -> G.getTranscripts().stream()).filter(T -> T.overlaps(position)).collect(Collectors.toList());
if (transcripts.isEmpty()) {
LOG.info("no gene found in chromosome " + tokens[0] + " (check chrom prefix?)");
} else {
for (final Transcript kg : transcripts) {
Exon bestExon = null;
for (final Exon exon : kg.getExons()) {
if (bestExon == null || Math.abs(distance(position.getPosition(), exon)) < Math.abs(distance(position.getPosition(), bestExon))) {
bestExon = exon;
}
}
if (bestExon != null) {
out.print(line);
out.print("\t");
out.print(bestExon.getTranscript().getId());
out.print("\t");
out.print(kg.getStart() - 1);
out.print("\t");
out.print(kg.getEnd());
out.print("\t");
out.print(kg.getStrand());
out.print("\t");
out.print(bestExon.getName());
out.print("\t");
out.print(bestExon.getStart() - 1);
out.print("\t");
out.print(bestExon.getEnd());
out.print("\t");
out.print(distance(position.getPosition(), bestExon));
out.println();
found = true;
}
}
}
if (!found) {
out.println(line + "\tNULL");
}
}
return RETURN_OK;
} catch (final Exception err) {
LOG.error(err);
return -1;
} finally {
CloserUtil.close(r);
CloserUtil.close(out);
}
}
use of com.github.lindenb.jvarkit.samtools.util.SimplePosition in project jvarkit by lindenb.
the class FindAVariation method scanRemote.
private void scanRemote(final String url) {
VCFReader tabix = null;
try {
tabix = VCFReaderFactory.makeDefault().open(url);
final VCFHeader header = tabix.getHeader();
final SAMSequenceDictionary dict = header.getSequenceDictionary();
for (final SimplePosition m : convertFromVcfHeader(url, header)) {
if (dict.getSequence(m.getContig()) == null)
continue;
final java.util.Iterator<VariantContext> iter2 = tabix.query(new Interval(m));
while (iter2.hasNext()) {
final VariantContext ctx = iter2.next();
if (this.onlySnp && (ctx.getStart() != m.getPosition() || ctx.getEnd() != m.getPosition()))
continue;
report(url, header, ctx, m);
}
CloserUtil.close(iter2);
}
tabix.close();
tabix = null;
} catch (final htsjdk.tribble.TribbleException.InvalidHeader err) {
LOG.warn(url + "\t" + err.getMessage());
} catch (final Throwable err) {
LOG.severe("cannot read " + url, err);
} finally {
CloserUtil.close(tabix);
}
}
use of com.github.lindenb.jvarkit.samtools.util.SimplePosition in project jvarkit by lindenb.
the class FindAVariation method scanPath.
private void scanPath(final String vcfPathString) {
final Path vcfPath = Paths.get(vcfPathString);
if (Files.isDirectory(vcfPath))
return;
if (!Files.isReadable(vcfPath))
return;
VCFIterator iter = null;
VCFReader r = null;
try {
if (vcfPathString.endsWith(FileExtensions.BCF) && BcfToolsUtils.isBcfToolsRequired(Paths.get(vcfPathString))) {
if (!this.use_bcf)
return;
}
if (isIndexed(vcfPath)) {
r = VCFReaderFactory.makeDefault().open(vcfPath, true);
final VCFHeader header = r.getHeader();
for (final SimplePosition m : convertFromVcfHeader(vcfPath.toString(), header)) {
try (CloseableIterator<VariantContext> iter2 = r.query(m)) {
while (iter2.hasNext()) {
final VariantContext ctx = iter2.next();
if (this.onlySnp && (ctx.getStart() != m.getPosition() || ctx.getEnd() != m.getPosition()))
continue;
report(vcfPathString, header, ctx, m);
}
}
}
r.close();
r = null;
} else if (!this.indexedOnly) {
iter = VCFUtils.createVCFIteratorFromPath(vcfPath);
final VCFHeader header = iter.getHeader();
final Set<SimplePosition> mutlist = convertFromVcfHeader(vcfPath.toString(), iter.getHeader());
while (iter.hasNext()) {
final VariantContext ctx = iter.next();
if (this.onlySnp && ctx.getLengthOnReference() != 1)
continue;
for (final SimplePosition m2 : mutlist) {
if (!m2.overlaps(ctx))
continue;
if (this.onlySnp && (ctx.getStart() != m2.getPosition() || ctx.getEnd() != m2.getPosition()))
continue;
report(vcfPathString, header, ctx, m2);
}
}
iter.close();
iter = null;
}
} catch (final htsjdk.tribble.TribbleException.InvalidHeader err) {
LOG.warn(vcfPathString + "\t" + err.getMessage());
} catch (final Throwable err) {
LOG.severe("cannot read " + vcfPathString, err);
} finally {
CloserUtil.close(r);
CloserUtil.close(iter);
}
}
use of com.github.lindenb.jvarkit.samtools.util.SimplePosition in project jvarkit by lindenb.
the class ValidateCnv method doWork.
@Override
public int doWork(final List<String> args) {
if (this.extendFactor <= 0) {
LOG.error("bad extend factor " + this.extendFactor);
return -1;
}
if (this.treshold < 0 || this.treshold >= 0.25) {
LOG.error("Bad treshold 0 < " + this.treshold + " >=0.25 ");
return -1;
}
final Map<String, BamInfo> sample2bam = new HashMap<>();
VariantContextWriter out = null;
Iterator<? extends Locatable> iterIn = null;
try {
final SAMSequenceDictionary dict = SequenceDictionaryUtils.extractRequired(this.rererencePath);
final CRAMReferenceSource cramReferenceSource = new ReferenceSource(this.rererencePath);
final List<Path> bamPaths = IOUtils.unrollPaths(this.bamFiles);
final String input = oneFileOrNull(args);
if (input == null) {
iterIn = IntervalListProvider.empty().dictionary(dict).skipUnknownContigs().fromInputStream(stdin(), "bed").iterator();
} else {
final IntervalListProvider ilp = IntervalListProvider.from(input).setVariantPredicate(CTX -> {
if (CTX.isSNP())
return false;
final String svType = CTX.getAttributeAsString(VCFConstants.SVTYPE, "");
if (svType != null && (svType.equals("INV") || svType.equals("BND")))
return false;
return true;
}).dictionary(dict).skipUnknownContigs();
iterIn = ilp.stream().iterator();
}
/* register each bam */
for (final Path p2 : bamPaths) {
final BamInfo bi = new BamInfo(p2, cramReferenceSource);
if (sample2bam.containsKey(bi.sampleName)) {
LOG.error("sample " + bi.sampleName + " specified twice.");
bi.close();
return -1;
}
sample2bam.put(bi.sampleName, bi);
}
if (sample2bam.isEmpty()) {
LOG.error("no bam was defined");
return -1;
}
final Set<VCFHeaderLine> metadata = new HashSet<>();
final VCFInfoHeaderLine infoSVSamples = new VCFInfoHeaderLine("N_SAMPLES", 1, VCFHeaderLineType.Integer, "Number of Samples that could carry a SV");
metadata.add(infoSVSamples);
final VCFInfoHeaderLine infoSvLen = new VCFInfoHeaderLine("SVLEN", 1, VCFHeaderLineType.Integer, "SV length");
metadata.add(infoSvLen);
final BiFunction<String, String, VCFFormatHeaderLine> makeFmt = (TAG, DESC) -> new VCFFormatHeaderLine(TAG, 1, VCFHeaderLineType.Integer, DESC);
final VCFFormatHeaderLine formatCN = new VCFFormatHeaderLine("CN", 1, VCFHeaderLineType.Float, "normalized copy-number. Treshold was " + this.treshold);
metadata.add(formatCN);
final VCFFormatHeaderLine nReadsSupportingSv = makeFmt.apply("RSD", "number of split reads supporting SV.");
metadata.add(nReadsSupportingSv);
final VCFFilterHeaderLine filterAllDel = new VCFFilterHeaderLine("ALL_DEL", "number of samples greater than 1 and all are deletions");
metadata.add(filterAllDel);
final VCFFilterHeaderLine filterAllDup = new VCFFilterHeaderLine("ALL_DUP", "number of samples greater than 1 and all are duplication");
metadata.add(filterAllDup);
final VCFFilterHeaderLine filterNoSV = new VCFFilterHeaderLine("NO_SV", "There is no DUP or DEL in this variant");
metadata.add(filterNoSV);
final VCFFilterHeaderLine filterHomDel = new VCFFilterHeaderLine("HOM_DEL", "There is one Homozygous deletion.");
metadata.add(filterHomDel);
final VCFFilterHeaderLine filterHomDup = new VCFFilterHeaderLine("HOM_DUP", "There is one Homozygous duplication.");
metadata.add(filterHomDup);
VCFStandardHeaderLines.addStandardFormatLines(metadata, true, VCFConstants.DEPTH_KEY, VCFConstants.GENOTYPE_KEY, VCFConstants.GENOTYPE_FILTER_KEY, VCFConstants.GENOTYPE_QUALITY_KEY);
VCFStandardHeaderLines.addStandardInfoLines(metadata, true, VCFConstants.DEPTH_KEY, VCFConstants.END_KEY, VCFConstants.ALLELE_COUNT_KEY, VCFConstants.ALLELE_FREQUENCY_KEY, VCFConstants.ALLELE_NUMBER_KEY);
final VCFHeader header = new VCFHeader(metadata, sample2bam.keySet());
if (dict != null)
header.setSequenceDictionary(dict);
JVarkitVersion.getInstance().addMetaData(this, header);
final ProgressFactory.Watcher<VariantContext> progress = ProgressFactory.newInstance().dictionary(dict).logger(LOG).build();
out = this.writingVariantsDelegate.dictionary(dict).open(this.outputFile);
out.writeHeader(header);
final Allele DUP_ALLELE = Allele.create("<DUP>", false);
final Allele DEL_ALLELE = Allele.create("<DEL>", false);
final Allele REF_ALLELE = Allele.create("N", true);
while (iterIn.hasNext()) {
final Locatable ctx = iterIn.next();
if (ctx == null)
continue;
final SAMSequenceRecord ssr = dict.getSequence(ctx.getContig());
if (ssr == null || ctx.getStart() >= ssr.getSequenceLength())
continue;
final int svLen = ctx.getLengthOnReference();
if (svLen < this.min_abs_sv_size)
continue;
if (svLen > this.max_abs_sv_size)
continue;
int n_samples_with_cnv = 0;
final SimplePosition breakPointLeft = new SimplePosition(ctx.getContig(), ctx.getStart());
final SimplePosition breakPointRight = new SimplePosition(ctx.getContig(), ctx.getEnd());
final int extend = 1 + (int) (svLen * this.extendFactor);
final int leftPos = Math.max(1, breakPointLeft.getPosition() - extend);
final int array_mid_start = breakPointLeft.getPosition() - leftPos;
final int array_mid_end = breakPointRight.getPosition() - leftPos;
final int rightPos = Math.min(breakPointRight.getPosition() + extend, ssr.getSequenceLength());
final VariantContextBuilder vcb = new VariantContextBuilder();
vcb.chr(ctx.getContig());
vcb.start(ctx.getStart());
vcb.stop(ctx.getEnd());
vcb.attribute(VCFConstants.END_KEY, ctx.getEnd());
final Set<Allele> alleles = new HashSet<>();
alleles.add(REF_ALLELE);
int count_dup = 0;
int count_del = 0;
int an = 0;
final Counter<Allele> countAlleles = new Counter<>();
final List<Genotype> genotypes = new ArrayList<>(sample2bam.size());
Double badestGQ = null;
final double[] raw_coverage = new double[CoordMath.getLength(leftPos, rightPos)];
for (final String sampleName : sample2bam.keySet()) {
final BamInfo bi = sample2bam.get(sampleName);
Arrays.fill(raw_coverage, 0.0);
int n_reads_supporting_sv = 0;
try (CloseableIterator<SAMRecord> iter2 = bi.samReader.queryOverlapping(ctx.getContig(), leftPos, rightPos)) {
while (iter2.hasNext()) {
final SAMRecord rec = iter2.next();
if (!SAMRecordDefaultFilter.accept(rec, this.min_mapq))
continue;
final Cigar cigar = rec.getCigar();
if (cigar == null || cigar.isEmpty())
continue;
// any clip supporting deletion ?
boolean read_supports_cnv = false;
final int breakpoint_distance = 10;
// any clip on left ?
if (cigar.isLeftClipped() && rec.getUnclippedStart() < rec.getAlignmentStart() && new SimpleInterval(ctx.getContig(), rec.getUnclippedStart(), rec.getAlignmentStart()).withinDistanceOf(breakPointLeft, breakpoint_distance)) {
read_supports_cnv = true;
}
// any clip on right ?
if (!read_supports_cnv && cigar.isRightClipped() && rec.getAlignmentEnd() < rec.getUnclippedEnd() && new SimpleInterval(ctx.getContig(), rec.getAlignmentEnd(), rec.getUnclippedEnd()).withinDistanceOf(breakPointRight, breakpoint_distance)) {
read_supports_cnv = true;
}
if (read_supports_cnv) {
n_reads_supporting_sv++;
}
int ref = rec.getStart();
for (final CigarElement ce : cigar) {
final CigarOperator op = ce.getOperator();
if (op.consumesReferenceBases()) {
if (op.consumesReadBases()) {
for (int x = 0; x < ce.getLength() && ref + x - leftPos < raw_coverage.length; ++x) {
final int p = ref + x - leftPos;
if (p < 0 || p >= raw_coverage.length)
continue;
raw_coverage[p]++;
}
}
ref += ce.getLength();
}
}
}
// end while iter record
}
// end try query for iterator
// test for great difference between DP left and DP right
final OptionalDouble medianDepthLeft = Percentile.median().evaluate(raw_coverage, 0, array_mid_start);
final OptionalDouble medianDepthRight = Percentile.median().evaluate(raw_coverage, array_mid_end, raw_coverage.length - array_mid_end);
// any is just too low
if (!medianDepthLeft.isPresent() || medianDepthLeft.getAsDouble() < this.min_depth || !medianDepthRight.isPresent() || medianDepthRight.getAsDouble() < this.min_depth) {
final Genotype gt2 = new GenotypeBuilder(sampleName, Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)).filter("LowDp").make();
genotypes.add(gt2);
continue;
}
final double difference_factor = 2.0;
// even if a value is divided , it remains greater than the other size
if (medianDepthLeft.getAsDouble() / difference_factor > medianDepthRight.getAsDouble() || medianDepthRight.getAsDouble() / difference_factor > medianDepthLeft.getAsDouble()) {
final Genotype gt2 = new GenotypeBuilder(sampleName, Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)).filter("DiffLR").make();
genotypes.add(gt2);
continue;
}
// run median to smooth spline
final double[] smoothed_cov = new RunMedian(RunMedian.getTurlachSize(raw_coverage.length)).apply(raw_coverage);
final double[] bounds_cov = IntStream.concat(IntStream.range(0, array_mid_start), IntStream.range(array_mid_end, smoothed_cov.length)).mapToDouble(IDX -> raw_coverage[IDX]).toArray();
final OptionalDouble optMedianBound = Percentile.median().evaluate(bounds_cov);
if (!optMedianBound.isPresent() || optMedianBound.getAsDouble() == 0) {
final Genotype gt2 = new GenotypeBuilder(sampleName, Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)).filter("MedZero").make();
genotypes.add(gt2);
continue;
}
final double medianBound = optMedianBound.getAsDouble();
// divide coverage per medianBound
final double[] normalized_mid_coverage = new double[array_mid_end - array_mid_start];
for (int i = 0; i < normalized_mid_coverage.length; ++i) {
normalized_mid_coverage[i] = smoothed_cov[array_mid_start + i] / medianBound;
}
final double normDepth = Percentile.median().evaluate(normalized_mid_coverage).getAsDouble();
final boolean is_sv;
final boolean is_hom_deletion = Math.abs(normDepth - 0.0) <= this.treshold;
final boolean is_het_deletion = Math.abs(normDepth - 0.5) <= this.treshold || (!is_hom_deletion && normDepth <= 0.5);
final boolean is_hom_dup = Math.abs(normDepth - 2.0) <= this.treshold || normDepth > 2.0;
final boolean is_het_dup = Math.abs(normDepth - 1.5) <= this.treshold || (!is_hom_dup && normDepth >= 1.5);
final boolean is_ref = Math.abs(normDepth - 1.0) <= this.treshold;
final double theoritical_depth;
final GenotypeBuilder gb;
if (is_ref) {
gb = new GenotypeBuilder(sampleName, Arrays.asList(REF_ALLELE, REF_ALLELE));
is_sv = false;
theoritical_depth = 1.0;
an += 2;
} else if (is_het_deletion) {
gb = new GenotypeBuilder(sampleName, Arrays.asList(REF_ALLELE, DEL_ALLELE));
alleles.add(DEL_ALLELE);
is_sv = true;
theoritical_depth = 0.5;
count_del++;
an += 2;
countAlleles.incr(DEL_ALLELE);
} else if (is_hom_deletion) {
gb = new GenotypeBuilder(sampleName, Arrays.asList(DEL_ALLELE, DEL_ALLELE));
alleles.add(DEL_ALLELE);
vcb.filter(filterHomDel.getID());
is_sv = true;
theoritical_depth = 0.0;
count_del++;
an += 2;
countAlleles.incr(DEL_ALLELE, 2);
} else if (is_het_dup) {
gb = new GenotypeBuilder(sampleName, Arrays.asList(REF_ALLELE, DUP_ALLELE));
alleles.add(DUP_ALLELE);
is_sv = true;
theoritical_depth = 1.5;
count_dup++;
an += 2;
countAlleles.incr(DUP_ALLELE);
} else if (is_hom_dup) {
gb = new GenotypeBuilder(sampleName, Arrays.asList(DUP_ALLELE, DUP_ALLELE));
alleles.add(DUP_ALLELE);
vcb.filter(filterHomDup.getID());
is_sv = true;
theoritical_depth = 2.0;
count_dup++;
an += 2;
countAlleles.incr(DUP_ALLELE, 2);
} else {
gb = new GenotypeBuilder(sampleName, Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)).filter("Ambigous");
is_sv = false;
theoritical_depth = 1.0;
}
if (is_sv) {
n_samples_with_cnv++;
}
double gq = Math.abs(theoritical_depth - normDepth);
gq = Math.min(0.5, gq);
gq = gq * gq;
gq = gq / 0.25;
gq = 99 * (1.0 - gq);
gb.GQ((int) gq);
if (badestGQ == null || badestGQ.compareTo(gq) > 0) {
badestGQ = gq;
}
gb.attribute(formatCN.getID(), normDepth);
gb.attribute(nReadsSupportingSv.getID(), n_reads_supporting_sv);
genotypes.add(gb.make());
}
vcb.attribute(VCFConstants.ALLELE_NUMBER_KEY, an);
final List<Allele> orderedAlleles = new ArrayList<>(alleles);
Collections.sort(orderedAlleles);
if (orderedAlleles.size() > 1) {
final List<Integer> acL = new ArrayList<>();
final List<Double> afL = new ArrayList<>();
for (int i = 1; i < orderedAlleles.size(); i++) {
final Allele a = orderedAlleles.get(i);
final int c = (int) countAlleles.count(a);
acL.add(c);
if (an > 0)
afL.add(c / (double) an);
}
vcb.attribute(VCFConstants.ALLELE_COUNT_KEY, acL);
if (an > 0)
vcb.attribute(VCFConstants.ALLELE_FREQUENCY_KEY, afL);
}
// if(alleles.size()<=1) continue;
vcb.alleles(orderedAlleles);
vcb.noID();
vcb.genotypes(genotypes);
vcb.attribute(infoSVSamples.getID(), n_samples_with_cnv);
vcb.attribute(infoSvLen.getID(), svLen);
if (count_dup == sample2bam.size() && sample2bam.size() != 1) {
vcb.filter(filterAllDup.getID());
}
if (count_del == sample2bam.size() && sample2bam.size() != 1) {
vcb.filter(filterAllDel.getID());
}
if (n_samples_with_cnv == 0) {
vcb.filter(filterNoSV.getID());
}
if (badestGQ != null) {
vcb.log10PError(badestGQ / -10.0);
}
out.add(vcb.make());
}
progress.close();
out.close();
return 0;
} catch (final Throwable err) {
LOG.error(err);
return -1;
} finally {
CloserUtil.close(iterIn);
CloserUtil.close(out);
sample2bam.values().forEach(F -> CloserUtil.close(F));
}
}
use of com.github.lindenb.jvarkit.samtools.util.SimplePosition in project jvarkit by lindenb.
the class StructuralVariantComparator method testBNDDistance.
private boolean testBNDDistance(final Locatable a, final Locatable b) {
final Function<Locatable, Locatable> bnd2interval = LOC -> {
if (!(LOC instanceof VariantContext)) {
return new SimplePosition(LOC.getContig(), LOC.getStart());
}
final VariantContext CTX = VariantContext.class.cast(LOC);
// can be negative
int extend_5 = 0;
// can be negative
int extend_3 = 0;
if (CTX.hasAttribute("CIPOS")) {
try {
// can be negative
final List<Integer> xList = CTX.getAttributeAsIntList("CIPOS", 0);
if (xList.size() == 2) {
extend_5 = xList.get(0).intValue();
extend_3 = xList.get(1).intValue();
if (extend_5 > 0)
extend_5 = 0;
if (extend_3 < 0)
extend_3 = 0;
}
} catch (final Throwable err) {
extend_5 = 0;
extend_3 = 0;
}
}
return new SimpleInterval(CTX.getContig(), CTX.getStart() + extend_5, /* can be negative */
CTX.getEnd() + extend_3);
};
// we use SimplePosition because getEnd() can be large when the BND is on the same chromosome
return this.withinDistanceOf(bnd2interval.apply(a), bnd2interval.apply(b), this.bnd_max_distance);
}
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