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Article

Variant Prioritization by Pedigree-Based Haplotyping.

Genetic epidemiology - 1 Apr 2026

Nafikov Rafael A, Sohi Harkirat K, Nato Alejandro Q, Horimoto Andrea R, Day Tyler R C, Bird Thomas D, DeStefano Anita L, Blue Elizabeth E, Wijsman Ellen M

Abstract excerpt

Whole genome sequence (WGS) data provides opportunities for comprehensive evaluation of variants that may influence complex traits. However, prioritizing the large number of variants, particularly those in non-coding regions, is a challenge. Here we present an approach that uses pedigree-based haplotyping to identify the risk haplotype and resulting set of prioritized variants in a region of interest (ROI)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41793281
DOI: 10.1002/gepi.70039
PMCID: PMC12967030

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