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Article

Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.

BMC bioinformatics - 21 Apr 2014

Castellani Christina A, Melka Melkaye G, Wishart Andrea E, Locke M Elizabeth O, Awamleh Zain, O'Reilly Richard L, Singh Shiva M

Abstract excerpt

BACKGROUND: Studies involving the analysis of structural variation including Copy Number Variation (CNV) have recently exploded in the literature. Furthermore, CNVs have been associated with a number of complex diseases and neurodevelopmental disorders. Common methods for CNV detection use SNP, CNV, or CGH arrays, where the signal intensities of consecutive probes are used to define the number of copies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24750645
DOI: 10.1186/1471-2105-15-114
PMCID: PMC4021055

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

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