Article

SavvyCNV: genome-wide CNV calling from off-target reads

2019-05-03

Abstract excerpt

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, a tool which uses off-target read data to call CNVs genome-wide. Up to 70% of sequencing reads from exome and targete...

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Literature Corpus work: 0cba5f2a-e4ba-5d8e-b63f-45d98072b6de
DOI: 10.1101/617605

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