Canvas SPW: calling de novo copy number variants in pedigrees

Abstract

Motivation Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary… (More)
DOI: 10.1093/bioinformatics/btx618

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