Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List

Clinical exome sequencing (CES) has shown great utility in the diagnosis of Mendelian disorders. CES can unravel secondary findings (SFs) unrelated to the primary diagnosis but with potential health implications. The American College of Medical Genetics and Genomics (ACMG) has published a guideline...

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Bibliographic Details
Main Authors: Yingzhao Huang, Bowen Liu, Jile Shi, Sen Zhao, Kexin Xu, Liying Sun, Na Chen, Wen Tian, Jianguo Zhang, Nan Wu
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Journal of Personalized Medicine
Subjects:
clinical exome sequencing
secondary finding
clinical genetics
rare disorders
Online Access:https://www.mdpi.com/2075-4426/12/9/1503

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