Article

Genome Sequencing Identifies Monogenic Causes in Adults with Metabolic Diseases

2025-11-19

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> A subset of metabolic diseases is caused by rare monogenic variants. Next generation sequencing (NGS)-based testing offers a promising approach for identifying such variants. However, its application in clinical diagnostics for metabolic diseases is limited, and the diagnostic yield is unknown. <h4>Methods</h4> We performed clinical genome sequencing (GS) on 560 adults seen in...

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Literature Corpus work: 9d08faf0-00f0-5f3d-b599-3453cbe77662
DOI: 10.1101/2025.11.14.25334651

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