Full text

Turn on search term navigation

© 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

To the Editor: Clinical DNA sequencing is increasingly being chosen as a diagnostic test for Mendelian disorders in genomic medicine. Besides the primary findings, clinically actionable secondary genetic variants could be detected in the DNA sequencing. SEE PDF] At the population level, approximately 17.37% (778/4480) of Chinese individuals carried at least one reported P/LP variant, whereas 4.2% (186/4480) of individuals had the pathogenic (P) variants. Because the 4480 samples also included individuals with Parkinson's disease (PD), we estimated a population frequency of 16.6% for P/LP variants in the PD patients and 18% in relatively healthy individuals. [...]the prevalence of biotinidase deficiency in East Asian (1/15 000 in Japanese and 1/620 400 in Chinese8) was lower than other ethnic groups (e.g., 1/9000 in Brazil9; please refer to the Supporting Information for more details). [...]we found that approximately 17.37% (778/4480) of Chinese individuals carried at least one reported P/LP variant in the 73 genes recommended by ACMG, and 295 P/LP genetic variants were detected in our WBBC pilot cohort.

Details

Title
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population
Author
Pei-Kuan Cong 1   VIAFID ORCID Logo  ; Saber Khederzadeh 1   VIAFID ORCID Logo  ; Cheng-Da, Yuan 2 ; Rui-Jie, Ma 3 ; Yi-Yao, Zhang 3 ; Jun-Quan, Liu 4 ; Shi-Hui, Yu 4 ; Xu, Lin 5 ; Gao, Jian-Hua 6 ; Hong-Xu, Pan 7 ; Jin-Chen, Li 7 ; Shu-Yang, Xie 5 ; Ke-Qi, Liu 6 ; Bei-Sha Tang 7   VIAFID ORCID Logo  ; Hou-Feng, Zheng 1   VIAFID ORCID Logo 

 Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China 
 Department of Dermatology, Hangzhou Hospital of Traditional Chinese Medicine, Hangzhou, Zhejiang, China 
 Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China 
 Clinical Genome Center, KingMed Diagnostics, Co. Ltd., Guangzhou, Guangdong, China 
 WBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China 
 WBBC Jiangxi Center, Jiangxi Medical College, Shangrao, Jiangxi, China 
 National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China 
Section
LETTER TO THE EDITOR
Publication year
2022
Publication date
May 2022
Publisher
John Wiley & Sons, Inc.
e-ISSN
20011326
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2760827335
Copyright
© 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.