Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls.
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ABSTRACT:
SUBMITTER: Pedersen BS
PROVIDER: S-EPMC6479422 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Publications
Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls.
Pedersen Brent S BS Quinlan Aaron R AR
GigaScience 20190401 4
Most structural variant (SV) detection methods use clusters of discordant read-pair and split-read alignments to identify variants yet do not integrate depth of sequence coverage as an additional means to support or refute putative events. Here, we present "duphold," a new method to efficiently annotate SV calls with sequence depth information that can add (or remove) confidence to SVs that are predicted to affect copy number. Duphold indicates not only the change in depth across the event but a ...[more]
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