Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data-Reference-Cited by-同舟云学术

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data

Published:2020-11-22 Issue:6 Volume:66 Page:637-641
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Yu Mullin Ho Chung,Mak Christopher Chun Yu,Fung Jasmine Lee Fong,Lee Mianne,Tsang Mandy Ho Yin,Chau Jeffrey Fong Ting^ORCID,Chung Patrick Ho-Yu,Yang Wanling,Chan Godfrey Chi Fung,Lee So Lun,Lau Yu Lung,Tam Paul Kwong Hang,Tang Clara Sze Man,Yeung Kit San,Chung Brian Hon Yin^ORCID

Funder

Food and Health Bureau of the Government of the Hong Kong Special Administrative Region | Health and Medical Research Fund

Society for the Relief of Disabled Children Li Ka Shing Donation Account: Enhanced New Staff Start-up Packages Children’s Heart Foundation Edward and Yolanda Wong Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-020-00875-w.pdf

Reference22 articles.

1. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565–74.

2. Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–55.

3. Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, et al. Actionable, pathogenic incidental findings in 1,000 participants’ exomes. Am J Hum Genet. 2013;93:631–40.

4. Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med. 2014;16:741–50.

5. Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, et al. Findings of a 1303 Korean whole-exome sequencing study. Exp Mol Med. 2017;49:e356.

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