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Article

Genotype phasing in pedigrees using whole-genome sequence data.

European journal of human genetics : EJHG - 1 Jun 2020

Blackburn August N, Blondell Lucy, Kos Mark Z, Blackburn Nicholas B, Peralta Juan M, Stevens Peter T, Lehman Donna M, Blangero John, Göring Harald H H

Abstract excerpt

Phasing is the process of inferring haplotypes from genotype data. Efficient algorithms and associated software for accurate phasing in pedigrees are needed, especially for populations lacking reference panels of sequenced individuals. We present a novel method for phasing genotypes from whole-genome sequence data in pedigrees, called PULSAR (Phasing Using Lineage Specific Alleles/Rare variants). The method is...

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Identifiers

PMID: 31996801
DOI: 10.1038/s41431-020-0574-3
PMCID: PMC7253450

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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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