Exemplo n.º 1
0
void
SVScorePairRefProcessor::
processClearedRecord(
    const bam_record& bamRead)
{
    using namespace illumina::common;

    assert(bamParams.isSet);

    const pos_t refPos(bamRead.pos()-1);
    if (! bamParams.interval.range.is_pos_intersect(refPos)) return;

    const bool isLargeInsert(isLargeInsertSV(sv));

#ifdef DEBUG_MEGAPAIR
    log_os << __FUNCTION__ << ": read: " << bamRead << "\n";
#endif

    /// check if fragment is too big or too small:
    const int templateSize(std::abs(bamRead.template_size()));
    if (templateSize < bamParams.minFrag) return;
    if (templateSize > bamParams.maxFrag) return;

    // count only from the down stream reads
    const bool isFirstBamRead(isFirstRead(bamRead));

    // get fragment range:
    pos_t fragBeginRefPos(refPos);
    if (! isFirstBamRead)
    {
        fragBeginRefPos=bamRead.mate_pos()-1;
    }

    const pos_t fragEndRefPos(fragBeginRefPos+templateSize);

    if (fragBeginRefPos > fragEndRefPos)
    {
        std::ostringstream oss;
        oss << "ERROR: Failed to parse fragment range from bam record. Frag begin,end: " << fragBeginRefPos << " " << fragEndRefPos << " bamRecord: " << bamRead << "\n";
        BOOST_THROW_EXCEPTION(LogicException(oss.str()));
    }

    {
        const pos_t fragOverlap(std::min((1+svParams.centerPos-fragBeginRefPos), (fragEndRefPos-svParams.centerPos)));
#ifdef DEBUG_MEGAPAIR
        log_os << __FUNCTION__ << ": frag begin/end/overlap: " << fragBeginRefPos << " " << fragEndRefPos << " " << fragOverlap << "\n";
#endif
        if (fragOverlap < pairOpt.minFragSupport) return;
    }

    SVFragmentEvidence& fragment(evidence.getSampleEvidence(bamParams.bamIndex)[bamRead.qname()]);

    static const bool isShadow(false);

    SVFragmentEvidenceRead& evRead(fragment.getRead(bamRead.is_first()));
    setReadEvidence(svParams.minMapQ, svParams.minTier2MapQ, bamRead, isShadow, evRead);

    setAlleleFrag(*bamParams.fragDistroPtr, templateSize, fragment.ref.getBp(isBp1),isLargeInsert);
}
Exemplo n.º 2
0
/// get SV candidates from SA-tag split-read alignment
static
SVObservation
GetSplitSACandidate(
    const ReadScannerDerivOptions& dopt,
    const bam_record& localRead,
    const SimpleAlignment& localAlign,
    const SimpleAlignment& remoteAlign,
    const FRAGSOURCE::index_t fragSource)
{
    using namespace SVEvidenceType;
    static const index_t svSource(SPLIT_ALIGN);

    SVObservation sv;
    sv.evtype = svSource;
    sv.fragSource = fragSource;

    SVBreakend& localBreakend(sv.bp1);
    SVBreakend& remoteBreakend(sv.bp2);

    // use single-side evidence, have to read the supp read to get the
    // reverse edge. this protects against double-count:
    localBreakend.lowresEvidence.add(svSource);

    updateSABreakend(dopt, localAlign, localBreakend);
    updateSABreakend(dopt, remoteAlign, remoteBreakend);

    // If the local (bp1) alignment is split downstream (on the right side) then this read goes from bp1 -> bp2.
    // If it is a forward read (e.g. read1 on + strand), this means it's a forward read for this event.
    const bool isSplitDownstream(isSplitOpenDownstream(localAlign.path));
    const bool isReadFw = (localRead.is_first() == localRead.is_fwd_strand());
    if (dopt.isStranded)
    {
        if (isReadFw == isSplitDownstream)
        {
            sv.fwReads += 1;
        }
        else
        {
            sv.rvReads += 1;
        }
    }
    return sv;
}
Exemplo n.º 3
0
/// get SV candidates from anomalous read pairs
static
void
getSVCandidatesFromPair(
    const ReadScannerOptions& opt,
    const ReadScannerDerivOptions& dopt,
    const SVLocusScanner::CachedReadGroupStats& rstats,
    const bam_record& localRead,
    const SimpleAlignment& localAlign,
    const bam_record* remoteReadPtr,
    std::vector<SVObservation>& candidates)
{
    if (! localRead.is_paired()) return;

    // don't count paired end evidence from SA-split reads twice:
    if (localRead.isNonStrictSupplement()) return;

    if (localRead.is_unmapped() || localRead.is_mate_unmapped()) return;

    // special case typically used for RNA-Seq analysis:
    if (opt.isIgnoreAnomProperPair && localRead.is_proper_pair()) return;

    // abstract remote alignment to SimpleAlignment object:
    const bool isRemote(nullptr != remoteReadPtr);
    const SimpleAlignment remoteAlign(isRemote ? getAlignment(*remoteReadPtr) : getFakeMateAlignment(localRead));

    AlignmentPairAnalyzer pairInspector(opt, dopt, rstats);
    pairInspector.reset(localAlign, remoteAlign, isRemote, localRead.is_first());

    if (! pairInspector.computeLargeEventRegionScale()) return;

    candidates.emplace_back();
    pairInspector.getSVObservation(candidates.back());

#ifdef DEBUG_SCANNER
    log_os << __FUNCTION__ << " evaluating pair sv for inclusion: " << candidates.back() << "\n";
#endif
}