Article

Transforming polygenic risk prediction: functional annotation and digital twin modeling with whole-exome sequencing

2025-03-10

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Polygenic risk scores (PRSs) are widely used to assess genetic predisposition, but genotyping arrays typically target non-coding variants with limited functional annotation. In contrast, whole-exome sequencing (WES) maps variants to protein-coding regions, providing functional insights that can enrich PRS interpretation and support novel computational frameworks...

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Literature Corpus work: c0bd0d59-4ed6-51c2-953d-feb979fc89f8
DOI: 10.21203/rs.3.rs-6169446/v1

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