SavvyCNV: Genome-wide CNV calling from off-target reads.

Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNVs outside their target area. We present SavvyCNV,...

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Main Authors: Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling
格式: Artigo
語言:Inglês
出版: Public Library of Science (PLoS) 2022-03-01
叢編:PLoS Computational Biology
在線閱讀:https://doi.org/10.1371/journal.pcbi.1009940
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