Article

Long-read sequencing of 945 Han individuals identifies novel structural variants associated with phenotypic diversity and disease susceptibility

2024-03-22

Abstract excerpt

Genomic structural variants (SVs) are a major source of genetic diversity in humans. Although numerous studies explore SV diversity across global populations and their potential impacts, validation using model systems are needed to confirm the reported genotype-phenotype associations. Here, through long-read sequencing of 945 Han Chinese genomes, we identify 111,288 SVs, including 24.56% unreported variants, many...

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Literature Corpus work: e1a56800-385b-5165-b1c7-2b563c19c993
DOI: 10.1101/2024.03.21.24304654

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