File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: HKG: an open genetic variant database of 205 Hong Kong cantonese exomes

TitleHKG: an open genetic variant database of 205 Hong Kong cantonese exomes
Authors
Issue Date2022
Citation
NAR Genom Bioinform, 2022, v. 4 n. 1, p. lqac005 How to Cite?
AbstractHKG is the first fully accessible variant database for Hong Kong Cantonese, constructed from 205 novel whole-exome sequencing data. There has long been a research gap in the understanding of the genetic architecture of southern Chinese subgroups, including Hong Kong Cantonese. HKG detected 196 325 high-quality variants with 5.93% being novel, and 25 472 variants were found to be unique in HKG compared to three Chinese populations sampled from 1000 Genomes (CHN). PCA illustrates the uniqueness of HKG in CHN, and the admixture study estimated the ancestral composition of HKG and CHN, with a gradient change from north to south, consistent with their geological distribution. ClinVar, CIViC and PharmGKB annotated 599 clinically significant variants and 360 putative loss-of-function variants, substantiating our understanding of population characteristics for future medical development. Among the novel variants, 96.57% were singleton and 6.85% were of high impact. With a good representation of Hong Kong Cantonese, we demonstrated better variant imputation using reference with the addition of HKG data, thus successfully filling the data gap in southern Chinese to facilitate the regional and global development of population genetics.
Persistent Identifierhttp://hdl.handle.net/10722/315051
ISSN
2023 Impact Factor: 4.0
2023 SCImago Journal Rankings: 2.454
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorOu, M-
dc.contributor.authorLeung, HCM-
dc.contributor.authorLeung, WS-
dc.contributor.authorLuk, HM-
dc.contributor.authorYan, B-
dc.contributor.authorLiu, CM-
dc.contributor.authorTong, TM-
dc.contributor.authorMok, MT-
dc.contributor.authorKo, WM-
dc.contributor.authorLaw, WC-
dc.contributor.authorLam, TW-
dc.contributor.authorLo, IF-
dc.contributor.authorLuo, R-
dc.date.accessioned2022-08-05T09:39:19Z-
dc.date.available2022-08-05T09:39:19Z-
dc.date.issued2022-
dc.identifier.citationNAR Genom Bioinform, 2022, v. 4 n. 1, p. lqac005-
dc.identifier.issn2631-9268-
dc.identifier.urihttp://hdl.handle.net/10722/315051-
dc.description.abstractHKG is the first fully accessible variant database for Hong Kong Cantonese, constructed from 205 novel whole-exome sequencing data. There has long been a research gap in the understanding of the genetic architecture of southern Chinese subgroups, including Hong Kong Cantonese. HKG detected 196 325 high-quality variants with 5.93% being novel, and 25 472 variants were found to be unique in HKG compared to three Chinese populations sampled from 1000 Genomes (CHN). PCA illustrates the uniqueness of HKG in CHN, and the admixture study estimated the ancestral composition of HKG and CHN, with a gradient change from north to south, consistent with their geological distribution. ClinVar, CIViC and PharmGKB annotated 599 clinically significant variants and 360 putative loss-of-function variants, substantiating our understanding of population characteristics for future medical development. Among the novel variants, 96.57% were singleton and 6.85% were of high impact. With a good representation of Hong Kong Cantonese, we demonstrated better variant imputation using reference with the addition of HKG data, thus successfully filling the data gap in southern Chinese to facilitate the regional and global development of population genetics.-
dc.languageeng-
dc.relation.ispartofNAR Genom Bioinform-
dc.titleHKG: an open genetic variant database of 205 Hong Kong cantonese exomes-
dc.typeArticle-
dc.identifier.emailYan, B: yanbin14@hku.hk-
dc.identifier.emailLiu, CM: imcx@hku.hk-
dc.identifier.emailLam, TW: twlam@cs.hku.hk-
dc.identifier.emailLuo, R: rbluo@cs.hku.hk-
dc.identifier.authorityLeung, HCM=rp00144-
dc.identifier.authorityYan, B=rp01940-
dc.identifier.authorityLam, TW=rp00135-
dc.identifier.authorityLuo, R=rp02360-
dc.identifier.doi10.1093/nargab/lqac005-
dc.identifier.hkuros335145-
dc.identifier.volume4-
dc.identifier.issue1-
dc.identifier.spagelqac005-
dc.identifier.epagelqac005-
dc.identifier.isiWOS:000764266800009-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats