Article

Comparative Analysis of Deep Learning Models for Predicting Causative Regulatory Variants

2025-05-24

Abstract excerpt

<h4>Motivation</h4> Genome-wide association studies (GWAS) have identified numerous noncoding variants associated with complex human diseases, disorders, and traits. However, resolving the uncertainty between GWAS association and causality remains a significant challenge. The small subset of noncoding GWAS variants with causative effects on gene regulatory elements can only be detected through accurate methods th...

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Literature Corpus work: eef646c5-ce20-57e4-98e4-fbd890e1b3df
DOI: 10.1101/2025.05.19.654920

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