Article

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

2023-12-22

Abstract excerpt

Advancements in long-read sequencing technology have accelerated the study of large structural variants (SVs). We created a curated, publicly available, multi-ancestry SV imputation panel by long-read sequencing 888 samples from the 1000 Genomes Project. This high-quality panel was used to impute SVs in approximately 500,000 UK Biobank participants. We demonstrated the feasibility of conducting genome-wide SV asso...

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Literature Corpus work: abb0da4c-84a5-5e8a-9244-0d9324499b64
DOI: 10.1101/2023.12.20.23300308

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