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

TitleActionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data
Authors
Issue Date2021
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/jhg/index.html
Citation
Journal of Human Genetics, 2021, v. 66 n. 6, p. 637-641 How to Cite?
AbstractThe 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.
Persistent Identifierhttp://hdl.handle.net/10722/294625
ISSN
2020 Impact Factor: 3.172
2020 SCImago Journal Rankings: 1.055
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorYu, MHC-
dc.contributor.authorMak, CCY-
dc.contributor.authorFung, JLF-
dc.contributor.authorLee, M-
dc.contributor.authorTsang, MHY-
dc.contributor.authorChau, JFT-
dc.contributor.authorChung, PHY-
dc.contributor.authorYang, W-
dc.contributor.authorChan, GCF-
dc.contributor.authorLee, SL-
dc.contributor.authorLau, YL-
dc.contributor.authorTam, PKH-
dc.contributor.authorTang, CZM-
dc.contributor.authorYeung, KS-
dc.contributor.authorChung, BHY-
dc.date.accessioned2020-12-08T07:39:37Z-
dc.date.available2020-12-08T07:39:37Z-
dc.date.issued2021-
dc.identifier.citationJournal of Human Genetics, 2021, v. 66 n. 6, p. 637-641-
dc.identifier.issn1434-5161-
dc.identifier.urihttp://hdl.handle.net/10722/294625-
dc.description.abstractThe 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.-
dc.languageeng-
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/jhg/index.html-
dc.relation.ispartofJournal of Human Genetics-
dc.titleActionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data-
dc.typeArticle-
dc.identifier.emailMak, CCY: ccymak@connect.hku.hk-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailChung, PHY: chungphy@hku.hk-
dc.identifier.emailYang, W: yangwl@hku.hk-
dc.identifier.emailChan, GCF: gcfchan@hku.hk-
dc.identifier.emailLee, SL: slleem@hku.hk-
dc.identifier.emailLau, YL: lauylung@hku.hk-
dc.identifier.emailTam, PKH: paultam@hku.hk-
dc.identifier.emailTang, CZM: claratang@hku.hk-
dc.identifier.emailYeung, KS: ksyyeung@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, PHY=rp02002-
dc.identifier.authorityYang, W=rp00524-
dc.identifier.authorityChan, GCF=rp00431-
dc.identifier.authorityLau, YL=rp00361-
dc.identifier.authorityTam, PKH=rp00060-
dc.identifier.authorityTang, CZM=rp02105-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/s10038-020-00875-w-
dc.identifier.pmid33223521-
dc.identifier.scopuseid_2-s2.0-85096376821-
dc.identifier.hkuros320454-
dc.identifier.hkuros325923-
dc.identifier.volume66-
dc.identifier.issue6-
dc.identifier.spage637-
dc.identifier.epage641-
dc.identifier.isiWOS:000591537900001-
dc.publisher.placeUnited Kingdom-

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