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Article

Inheritance model introduces differential bias in CNV calls between parents and offspring.

Genetic epidemiology - 1 Jul 2012

Kim Sulgi, Millard Steven P, Yu Chang-En, Leong Lesley, Radant Allen, Dobie Dorcas, Tsuang Debby W, Wijsman Ellen M

Abstract excerpt

Copy Number Variation (CNV) is increasingly implicated in disease pathogenesis. CNVs are often identified by statistical models applied to data from single nucleotide polymorphism panels. Family information for samples provides additional information for CNV inference. Two modes of PennCNV (the Joint-call and Posterior-call), which are some of the most well-developed family-based CNV calling methods, use a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22628073
DOI: 10.1002/gepi.21643
PMCID: PMC3678551

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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