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Article

Genome-wide associations of structural variants with human traits through imputation from long-read assemblies.

Nature genetics - 1 Jun 2026

Bai Wei-Yang, Liu Shuli, Duan Zhongqu, Yang Ji-Jian, Chen Jie, Hou Junren, Wu Lianfeng, Li Nan, Qi Ting, Yang Jian

Abstract excerpt

Structural variants (SVs) are a major type of genetic variation, yet their role in human traits remains largely uncharacterized, primarily due to challenges in genotyping them on a genome-wide scale in large cohorts. Here we identified 171,233 high-quality, genome-wide SVs from 482 haplotype-resolved genome assemblies derived from PacBio HiFi long-read sequencing of 241 individuals. We developed a reference panel...

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Identifiers

PMID: 42156564
DOI: 10.1038/s41588-026-02612-z
PMCID: PMC13263140

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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