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Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls

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 effici...

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Bibliographic Details
Published in:Gigascience
Main Authors: Pedersen, Brent S, Quinlan, Aaron R
Format: Artigo
Language:Inglês
Published: Oxford University Press 2019
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6479422/
https://ncbi.nlm.nih.gov/pubmed/31222198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/gigascience/giz040
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