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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2016

Pugh Trevor J, Amr Sami S, Bowser Mark J, Gowrisankar Sivakumar, Hynes Elizabeth, Mahanta Lisa M, Rehm Heidi L, Funke Birgit, Lebo Matthew S

Abstract excerpt

PURPOSE: To develop and validate VisCap, a software program targeted to clinical laboratories for inference and visualization of germ-line copy-number variants (CNVs) from targeted next-generation sequencing data. METHODS: VisCap calculates the fraction of overall sequence coverage assigned to genomic intervals and computes log2 ratios of these values to the median of reference samples profiled using the same...

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26681316
DOI: 10.1038/gim.2015.156
PMCID: PMC4940431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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