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Article

Assessing Hardy-Weinberg equilibrium in T2T-aligned 1000 genomes project.

PLoS genetics - 1 Sept 2026

Garg Elika, Romain Jaffa, Sun Lei, Paterson Andrew D

Abstract excerpt

Quality control of markers in genome-wide association studies often includes testing for Hardy-Weinberg equilibrium (HWE). However, this is usually implemented in a homogeneous population without stratifying by sex. Previous work indicates sex-based selection at numerous autosomal loci in cohorts with active recruitment. Sex chromosome sequences can also interfere with autosomal SNPs. These motivate a...

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Topics

Humans
Polymorphism, Single Nucleotide
Genome-Wide Association Study
Gene Frequency
Linkage Disequilibrium
Female
Male

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

Telomere

Genome, Human

Genetics, Population

Alleles

Whole Genome Sequencing

Genotype

Source

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Identifiers

PMID: 42743265
DOI: 10.1371/journal.pgen.1012280
PMCID: PMC13596830

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