Article
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2025
Fazal Sarah, Dashnow Harriet, Dohrn Maike F, Raposo Jacquelyn, Hiatt Laurel, Danzi Matt C, Xu Isaac R L, Toro Camilo, Adams David R, Usdin Karen, Hayward Bruce, Kobren Shilpa Nadimpalli, Sunyaev Shamil R, Spillmann Rebecca C, Shashi Vandana, Rebelo Adriana, Bademci Guney, Tekin Mustafa, Quinlan Aaron R, Zuchner Stephan
Abstract excerpt
PURPOSE: The Undiagnosed Diseases Network is a National Institutes of Health funded research study that aims to solve a broad clinical spectrum of challenging rare disease cases. Participants receive care from multiple clinical specialists, who collaborate to perform deep phenotyping and state-of-the-art multiomics analyses. As bioinformatics of short-read sequencing has matured, the discovery of repeat expansion...
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