Exemple #1
0
static
void
getSingleReadSVCandidates(
    const ReadScannerOptions& opt,
    const ReadScannerDerivOptions& dopt,
    const bam_record& localRead,
    const SimpleAlignment& localAlign,
    const chromMap_t& chromToIndex,
    const reference_contig_segment& refSeq,
    std::vector<SVObservation>& candidates)
{
    using namespace illumina::common;

    const bool isRead2(localRead.is_paired() && (localRead.read_no() == 2));
    const FRAGSOURCE::index_t fragSource(isRead2 ? FRAGSOURCE::READ2 : FRAGSOURCE::READ1);

    // - process any large indels in the localRead:
    getSVCandidatesFromReadIndels(opt, dopt, localAlign, fragSource, candidates);
#ifdef DEBUG_SCANNER
    log_os << __FUNCTION__ << ": post-indels candidate_size: " << candidates.size() << "\n";
#endif

    // a read can provide SA split evidence or semi-aligned/soft-clip, but not both.
    // this prevents split reads from triggering spurious local assembles. It is
    // possible for a read to genuinely contain evidence of both, but this should
    // be very rare.
    if (localRead.isSASplit())
    {
        getSACandidatesFromRead(opt, dopt, localRead, localAlign, fragSource, chromToIndex,
                                candidates);
#ifdef DEBUG_SCANNER
        log_os << __FUNCTION__ << ": post-split read candidate_size: " << candidates.size() << "\n";
#endif
    }
    else
    {
        if (dopt.isSmallCandidates)
        {
            getSVCandidatesFromSemiAligned(opt, dopt, localRead, localAlign, fragSource, refSeq,
                                           candidates);
        }
#ifdef DEBUG_SCANNER
        log_os << __FUNCTION__ << ": post-semialigned candidate_size: " << candidates.size() << "\n";
#endif
    }
}
Exemple #2
0
bool
SVLocusScanner::
isSVEvidence(
    const bam_record& bamRead,
    const unsigned defaultReadGroupIndex,
    const reference_contig_segment& refSeq,
    SVLocusEvidenceCount* incountsPtr) const
{
    // exclude innie read pairs which are anomalously short:
    const bool isAnom(isNonCompressedAnomalous(bamRead,defaultReadGroupIndex));
    const bool isSplit(bamRead.isSASplit());
    getAlignment(bamRead,_bamAlign);
    const bool isIndel(isLocalIndelEvidence(_bamAlign));
    const bool isAssm((_dopt.isSmallCandidates) && ((!isSplit) && isSemiAlignedEvidence(bamRead, _bamAlign, refSeq)));

    const bool isEvidence(isAnom || isSplit || isIndel || isAssm);

    if (nullptr != incountsPtr)
    {
        SVLocusEvidenceCount& incounts(*incountsPtr);
        incounts.total++;
        if (isAnom) incounts.anom++;
        if (isSplit) incounts.split++;
        if (isIndel) incounts.indel++;
        if (isAssm) incounts.assm++;

        if (! isEvidence) incounts.ignored++;

        if (isAnom)
        {
            if (isMateInsertionEvidenceCandidate(bamRead, getMinMapQ()))
            {
                // these counts are used to generate background noise rates in later candidate generation stages:
                incounts.remoteRecoveryCandidates++;
            }
        }
    }

    return isEvidence;
}