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Updated: Mar 31, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Simultaneous inference of haplotypes and alleles at a causal gene
Fabrice Larribe1, Mathieu J Dupont2, Gabrielle Boucher3
1Département de Mathématiques, Université du Québec à Montréal Montréal, QC, Canada.
Abstract:
We present a methodology which jointly infers haplotypes and the causal alleles at a gene influencing a given trait. Often in human genetic studies, the available data consists of genotypes (series of genetic markers along the chromosomes) and a phenotype. However, for many genetic analyses, one needs haplotypes instead of genotypes. Our methodology is not only able to estimate haplotypes conditionally on the disease status, but is also able to infer the alleles at the unknown disease locus. Some applications of our methodology are in genetic mapping and in genetic counseling.
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