Article

Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation

2025-04-01

Abstract excerpt

<h4>Background</h4> Genetics is rapidly deepening our understanding of human health and disease by investigating both common and rare genetic variants and their influence on gene expression[1,2]. Alternative splicing is a molecular mechanism enabling a single gene to produce multiple protein isoforms with distinct biological functions[3]. However, while protein isoforms are ubiquitous in humans, we here show that...

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Literature Corpus work: 3a3d91a4-cdba-5c0d-b4b4-acaa689caefa
DOI: 10.1101/2025.03.31.25324931

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