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Article

Haplotype estimation using sequencing reads.

American journal of human genetics - 3 Oct 2013

Delaneau Olivier, Howie Bryan, Cox Anthony J, Zagury Jean-François, Marchini Jonathan

Abstract excerpt

High-throughput sequencing technologies produce short sequence reads that can contain phase information if they span two or more heterozygote genotypes. This information is not routinely used by current methods that infer haplotypes from genotype data. We have extended the SHAPEIT2 method to use phase-informative sequencing reads to improve phasing accuracy. Our model incorporates the read information in a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 24094745
DOI: 10.1016/j.ajhg.2013.09.002
PMCID: PMC3791270

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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