Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases

Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases

Summary: The total burden of rare diseases is significant worldwide, with over 300 million people being affected. Many rare diseases have both well-defined clinical phenotypes and established genetic causes. However, a remarkable proportion of patients with high clinical suspicion of a rare disease...

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Bibliographic Details
Main Authors: Hau-Yee Ng, Wei Ma, Wai-Kei J. Lam, Chak-Sing Lau, Ho-Ming Luk, Lisa W.C. Au, Shirley S.W. Cheng, Josephine S.C. Chong, Stephanie Ho, Becky M. Ma, Shirley Y.Y. Pang, Annie T.W. Chu, Brian H.Y. Chung
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:HGG Advances
Subjects:
whole genome sequencing
rare diseases
structural variants
non-coding variants
repeat expansions
pseudogenes
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000727
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