Article

Common variant approaches to study Mendelian disease gene function identify novel phenome and pathways associated with <i>PLOD3</i>

2025-11-27

Abstract excerpt

<h4>Background</h4> The study of rare and common genetic disorders, in terms of study design, methods, and their genetic architecture, has largely been thought of as distinct. As sequencing technologies and analysis methods have advanced, we have learned that polygenic background can affect the penetrance, severity, and onset of certain Mendelian conditions. While genome-wide analyses have significantly contribut...

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Literature Corpus work: 5c118648-98e9-5db9-bb66-d8a6f4f7f5e5
DOI: 10.1101/2025.11.25.25340832

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