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Article

CollapsABEL: an R library for detecting compound heterozygote alleles in genome-wide association studies.

BMC bioinformatics - 8 Apr 2016

Zhong Kaiyin, Karssen Lennart C, Kayser Manfred, Liu Fan

Abstract excerpt

BACKGROUND: Compound Heterozygosity (CH) in classical genetics is the presence of two different recessive mutations at a particular gene locus. A relaxed form of CH alleles may account for an essential proportion of the missing heritability, i.e. heritability of phenotypes so far not accounted for by single genetic variants. Methods to detect CH-like effects in genome-wide association studies (GWAS) may...

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PMID: 27059780
DOI: 10.1186/s12859-016-1006-9
PMCID: PMC4826552

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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