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Article

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.

American journal of human genetics - 5 Oct 2012

Fromer Menachem, Moran Jennifer L, Chambert Kimberly, Banks Eric, Bergen Sarah E, Ruderfer Douglas M, Handsaker Robert E, McCarroll Steven A, O'Donovan Michael C, Owen Michael J, Kirov George, Sullivan Patrick F, Hultman Christina M, Sklar Pamela, Purcell Shaun M

Abstract excerpt

Sequencing of gene-coding regions (the exome) is increasingly used for studying human disease, for which copy-number variants (CNVs) are a critical genetic component. However, detecting copy number from exome sequencing is challenging because of the noncontiguous nature of the captured exons. This is compounded by the complex relationship between read depth and copy number; this results from biases in targeted...

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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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Share to High-Throughput Nucleotide Sequencing

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Source

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Identifiers

PMID: 23040492
DOI: 10.1016/j.ajhg.2012.08.005
PMCID: PMC3484655

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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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