use of au.edu.wehi.idsv.IdsvVariantContextBuilder in project gridss by PapenfussLab.
the class VariantCallingConfigurationTest method V.
public VariantContextDirectedBreakpoint V(BreakpointSummary bs, String untemplated) {
IdsvVariantContextBuilder builder = new IdsvVariantContextBuilder(getContext());
builder.breakpoint(bs, untemplated);
return (VariantContextDirectedBreakpoint) builder.make();
}
use of au.edu.wehi.idsv.IdsvVariantContextBuilder in project gridss by PapenfussLab.
the class SimulatedChromosome method create.
protected IdsvVariantContextBuilder create(BreakpointSummary bp, String event) {
IdsvVariantContextBuilder builder = new IdsvVariantContextBuilder(context);
builder.breakpoint(bp, "").id(event + (bp.isLowBreakend() ? "o" : "h")).attribute(VcfSvConstants.BREAKEND_EVENT_ID_KEY, event).attribute(VcfSvConstants.PARTNER_BREAKEND_ID_KEY, event + (bp.isLowBreakend() ? "h" : "o")).attribute(VcfSvConstants.MATE_BREAKEND_ID_KEY, event + (bp.isLowBreakend() ? "h" : "o"));
return builder;
}
use of au.edu.wehi.idsv.IdsvVariantContextBuilder in project gridss by PapenfussLab.
the class BreakpointHomology method annotate.
public static VariantContextDirectedBreakpoint annotate(ProcessingContext context, VariantContextDirectedBreakpoint bp) {
if (!bp.isBreakendExact())
return bp;
IdsvVariantContextBuilder builder = new IdsvVariantContextBuilder(context, bp);
BreakpointHomology bh = BreakpointHomology.calculate(context.getReference(), bp.getBreakendSummary().getNominalPosition(), bp.getUntemplatedSequence(), context.getVariantCallingParameters().maxBreakendHomologyLength, context.getVariantCallingParameters().breakendHomologyAlignmentMargin);
int[] bounds;
if (bp.getBreakendSummary().direction == BreakendDirection.Forward) {
bounds = new int[] { -bh.getLocalHomologyLength(), bh.getRemoteHomologyLength() };
} else {
bounds = new int[] { -bh.getRemoteHomologyLength(), bh.getLocalHomologyLength() };
}
builder.attribute(VcfInfoAttributes.INEXACT_HOMPOS, bounds);
return (VariantContextDirectedBreakpoint) builder.make();
}
use of au.edu.wehi.idsv.IdsvVariantContextBuilder in project gridss by PapenfussLab.
the class TruthAnnotator method annotate.
public VariantContextDirectedEvidence annotate(VariantContextDirectedEvidence variant) {
BreakendSummary variantBreakend = variant.getBreakendSummary();
BreakpointSummary variantBreakpoint = null;
if (variantBreakend instanceof BreakpointSummary) {
variantBreakpoint = (BreakpointSummary) variantBreakend;
variantBreakend = variantBreakpoint.localBreakend();
}
HashSet<String> breakpointHits = Sets.newHashSet();
HashSet<String> breakendHits = Sets.newHashSet();
for (IdsvVariantContext truthVariant : truth) {
if ((truthVariant.hasAttribute(VcfSvConstants.SV_TYPE_KEY) && truthVariant.getAttributeAsString(VcfSvConstants.SV_TYPE_KEY, "").equals("INS")) || (truthVariant.hasAttribute(VcfSvConstants.SV_TYPE_KEY) && truthVariant.getAttributeAsString(VcfSvConstants.SV_TYPE_KEY, "").equals("DEL"))) {
int svLen = truthVariant.getAttributeAsInt(VcfSvConstants.SV_LENGTH_KEY, 0);
int untemplatedSequence = 0;
if (variant instanceof VariantContextDirectedEvidence) {
untemplatedSequence = ((VariantContextDirectedEvidence) variant).getBreakendSequence().length;
}
// two breakpoints: forward & backward
BreakendSummary truthBreakendStart = new BreakendSummary(truthVariant.getReferenceIndex(), BreakendDirection.Forward, truthVariant.getStart());
int endOffset = Math.max(0, -truthVariant.getAttributeAsInt(VcfSvConstants.SV_LENGTH_KEY, 0));
endOffset = truthVariant.getStart() + endOffset + 1;
BreakendSummary truthBreakendEnd = new BreakendSummary(truthVariant.getReferenceIndex(), BreakendDirection.Backward, endOffset);
BreakpointSummary truthBreakpoint = new BreakpointSummary(truthBreakendStart, truthBreakendEnd);
if (matches(truthBreakpoint, variantBreakpoint, svLen, untemplatedSequence)) {
breakpointHits.add(truthVariant.getID());
} else if (matches(truthBreakpoint, variantBreakend, svLen, untemplatedSequence)) {
breakendHits.add(truthVariant.getID());
}
} else {
throw new RuntimeException(String.format("Matching of truth variant at %s:%d not yet implemented.", truthVariant.getContig(), truthVariant.getStart()));
}
}
if (!breakpointHits.isEmpty() || !breakendHits.isEmpty()) {
IdsvVariantContextBuilder builder = new IdsvVariantContextBuilder(processContext, variant);
builder.attribute("TRUTH_MATCHES", Lists.newArrayList(breakpointHits));
builder.attribute("TRUTH_MISREALIGN", Lists.newArrayList(breakendHits));
return (VariantContextDirectedEvidence) builder.make();
}
return variant;
}
use of au.edu.wehi.idsv.IdsvVariantContextBuilder in project gridss by PapenfussLab.
the class AnnotateInexactHomologyTest method should_calculate_inexact_homology.
@Test
public void should_calculate_inexact_homology() {
ProcessingContext pc = getContext();
StructuralVariationCallBuilder builder = new StructuralVariationCallBuilder(pc, (VariantContextDirectedEvidence) new IdsvVariantContextBuilder(getContext()) {
{
breakpoint(new BreakpointSummary(2, FWD, 78, 6, BWD, 79), "");
phredScore(50);
}
}.make());
builder.addEvidence(SR(Read(2, 78, "1M1S"), Read(6, 79, "1M")));
VariantContextDirectedBreakpoint e = (VariantContextDirectedBreakpoint) builder.make();
AnnotateInexactHomology aih = new AnnotateInexactHomology();
aih.setContext(pc);
ExecutorService threadpool = Executors.newSingleThreadExecutor();
e = aih.iterator(new AutoClosingIterator<>(ImmutableList.of(e).iterator()), threadpool).next();
assertEquals(-78, ((int[]) e.getAttribute(VcfInfoAttributes.INEXACT_HOMPOS.attribute()))[0]);
assertEquals(300, ((int[]) e.getAttribute(VcfInfoAttributes.INEXACT_HOMPOS.attribute()))[1]);
threadpool.shutdown();
}
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