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Article

Fast detection of de novo copy number variants from SNP arrays for case-parent trios.

BMC bioinformatics - 12 Dec 2012

Scharpf Robert B, Beaty Terri H, Schwender Holger, Younkin Samuel G, Scott Alan F, Ruczinski Ingo

Abstract excerpt

BACKGROUND: In studies of case-parent trios, we define copy number variants (CNVs) in the offspring that differ from the parental copy numbers as de novo and of interest for their potential functional role in disease. Among the leading array-based methods for discovery of de novo CNVs in case-parent trios is the joint hidden Markov model (HMM) implemented in the PennCNV software. However, the computational...

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Identifiers

PMID: 23234608
DOI: 10.1186/1471-2105-13-330
PMCID: PMC3576329

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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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