Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort

Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort

Structural variants (SVs) contribute to the genetic architecture of autism spectrum disorder (ASD), but their comprehensive characterization is limited by technological challenges in their detection. Optical genome mapping (OGM) offers a promising alternative, enabling the identification of large-sc...

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Bibliographic Details
Main Authors: Yunjia Zhang, Wai-Tong Chien, Judy Yuet-Wa Chan, Tsz-Yan Cheung, Zhiqian He, Kai-Hang Yip, Dorothy Fung-Ying Chan, Josephine Shuk-Ching Chong, Mary Miu-Yee Waye, Sek-Ying Chair, Ting-Fung Chan
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Computational and Structural Biotechnology Journal
Subjects:
Optical genome mapping
Autism spectrum disorder
Structural variants
Genetic architecture
Online Access:http://www.sciencedirect.com/science/article/pii/S2001037025002065
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