VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.

Trevor J Pugh Sami S AmrMark J BowserSivakumar GowrisankarElizabeth D HynesLisa M MahantaMichael J BamshadBirgit FunkeMatthew S Lebo

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

VisCap is a sensitive method for inferring CNVs from targeted sequence data from targeted gene panels. Visual scoring of data underlying CNV calls is a critical step to reduce false-positive calls for follow-up testing.Genet Med 18 7, 712-719.Genetics in Medicine (2016); 18 7, 712-719. doi:10.1038/gim.2015.156.

Keyphrases

copy number
mitochondrial dna
electronic health record
genome wide
cancer therapy
big data
artificial intelligence
deep learning
transcription factor
amino acid
high throughput sequencing