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A Long-read based Haplotype Panel Enhances Imputation and Discovery of Functional Small and Structural Variants

2025-04-10

Abstract excerpt

<title>Abstract</title> <p>Haplotype reference panels are commonly used for genotype imputation in genome-wide association studies (GWAS). Although structural variations (SVs) are recognized as major contributors to human phenotypes, they are often excluded from GWAS analyses. Here, we integrate long-read-based and statistical methods to provide a comprehensive haplotype reference panel (Han-SV panel) incorporati...

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Literature Corpus work
b139d3e6-5ec0-598f-b316-b0b20748465c
DOI
10.21203/rs.3.rs-6312842/v1
Open publication

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A Long-read based Haplotype Panel Enhances Imputation and Discovery of Functional Small and Structural VariantsDOI 10.21203/rs.3.rs-6312842/v1
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