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Article

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2015

Retterer Kyle, Scuffins Julie, Schmidt Daniel, Lewis Rachel, Pineda-Alvarez Daniel, Stafford Amanda, Schmidt Lindsay, Warren Stephanie, Gibellini Federica, Kondakova Anastasia, Blair Amanda, Bale Sherri, Matyakhina Ludmila, Meck Jeanne, Aradhya Swaroop, Haverfield Eden

Abstract excerpt

PURPOSE: Detection of copy-number variation (CNV) is important for investigating many genetic disorders. Testing a large clinical cohort by array comparative genomic hybridization provides a deep perspective on the spectrum of pathogenic CNV. In this context, we describe a bioinformatics approach to extract CNV information from whole-exome sequencing and demonstrate its utility in clinical testing. METHODS:...

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Identifiers

PMID: 25356966
DOI: 10.1038/gim.2014.160

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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