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Article

New quality measure for SNP array based CNV detection.

Bioinformatics (Oxford, England) - 1 Nov 2016

Macé A, Tuke M A, Beckmann J S, Lin L, Jacquemont S, Weedon M N, Reymond A, Kutalik Z

Abstract excerpt

MOTIVATION: Only a few large systematic studies have evaluated the impact of copy number variants (CNVs) on common diseases. Several million individuals have been genotyped on single nucleotide variation arrays, which could be used for genome-wide CNVs association studies. However, CNV calls remain prone to false positives and only empirical filtering strategies exist in the literature. To overcome this issue, we...

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PMID: 27402902
DOI: 10.1093/bioinformatics/btw477

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

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