Article

Canvas SPW: calling <i>de novo</i> copy number variants in pedigrees

2017-03-29

Abstract excerpt

<h4>Motivation</h4> 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 pedigree structure. <h4>Results</h4> We have dev...

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Literature Corpus work: bcebf03e-b6ee-5179-b6fc-23ea7ff22916
DOI: 10.1101/121939

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