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


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Article Info

DATE

2020-11-22

AUTHORS

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

ABSTRACT

The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evaluate secondary findings in different ethnicities. However, relevant data are limited in Chinese. Here, with the use of a cohort consisted of 1116 Hong Kong Chinese exome sequencing data, we evaluated the secondary findings in the 59 genes recommended by the American College of Medical Genetics and Genomics. Fifteen unique pathogenic or likely pathogenic variants in 17 individuals were identified, representing a frequency of 1.52% in our cohort. Although 20 individuals harboured pathogenic or likely pathogenic variants in recessive conditions, none carried bi-allelic mutations in the same gene. Our finding was in accordance with the estimation from the American College of Medical Genetics and Genomics that about 1% individuals harbour secondary findings. More... »

PAGES

637-641

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s10038-020-00875-w

    DOI

    http://dx.doi.org/10.1038/s10038-020-00875-w

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1132835728

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/33223521


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    339 Dr Li Dak-Sum Research Centre, The University of Hong Kong—Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong SAR, China
    340 rdf:type schema:Organization
    341 grid-institutes:grid.415550.0 schema:alternateName Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR, China
    342 schema:name Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
    343 Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR, China
    344 Department of Paediatrics, The Hong Kong Children’s Hospital, Hong Kong SAR, China
    345 rdf:type schema:Organization
     




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