Article

Comprehensive structural variant haplotype panel of 943 Han Chinese from long-read whole-genome sequencing

2024-11-07

Abstract excerpt

<title>Abstract</title> <p>Background Structural variations (SVs) are important genomic elements in evolution and disease, yet they remain underutilized in genome-wide association studies (GWAS) due to technical challenges and high cost in their detection and genotyping. Results We developed a comprehensive haplotype reference panel incorporating over 35 million variants, including 172,569 SVs, from 943 Han Chi...

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Literature Corpus work: 725b2864-50e4-5c8e-9ad6-f33e0050ea04
DOI: 10.21203/rs.3.rs-5343403/v1

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