View in EDS HTML Full Text PDF Full Text

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Saved in:
Bibliographic Details
Title: Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Authors: Chau JFT; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Yu MHC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chui MMC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Yeung CCW; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Kwok AWC; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Zhuang X; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Lee R; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Lee M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Ng NYT; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chung CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chan MCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Tsang MHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chan JCK; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chan KYK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong SAR, China., Kan ASY; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong SAR, China., Chung PHY; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Yang W; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Lee SL; Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, Hong Kong SAR, China., Chan GCF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Tam PKH; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institute Collaboration in Regenerative Medicine, Hong Kong SAR, China., Lau YL; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Yeung KS; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. jsks@connect.hku.hk., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. bhychung@hku.hk., Tang CSM; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. claratang@hku.hk.; Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institute Collaboration in Regenerative Medicine, Hong Kong SAR, China. claratang@hku.hk.
Source: NPJ genomic medicine [NPJ Genom Med] 2022 Mar 21; Vol. 7 (1), pp. 23. Date of Electronic Publication: 2022 Mar 21.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 35314707
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Chau+JFT%22">Chau JFT</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yu+MHC%22">Yu MHC</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chui+MMC%22">Chui MMC</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yeung+CCW%22">Yeung CCW</searchLink>; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Kwok+AWC%22">Kwok AWC</searchLink>; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Zhuang+X%22">Zhuang X</searchLink>; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Lee+R%22">Lee R</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Fung+JLF%22">Fung JLF</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Lee+M%22">Lee M</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Mak+CCY%22">Mak CCY</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Ng+NYT%22">Ng NYT</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chung+CCY%22">Chung CCY</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chan+MCY%22">Chan MCY</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Tsang+MHY%22">Tsang MHY</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chan+JCK%22">Chan JCK</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chan+KYK%22">Chan KYK</searchLink>; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Kan+ASY%22">Kan ASY</searchLink>; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chung+PHY%22">Chung PHY</searchLink>; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yang+W%22">Yang W</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Lee+SL%22">Lee SL</searchLink>; Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chan+GCF%22">Chan GCF</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Tam+PKH%22">Tam PKH</searchLink>; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institute Collaboration in Regenerative Medicine, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Lau+YL%22">Lau YL</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yeung+KS%22">Yeung KS</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. jsks@connect.hku.hk.<br /><searchLink fieldCode="AU" term="%22Chung+BHY%22">Chung BHY</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. bhychung@hku.hk.<br /><searchLink fieldCode="AU" term="%22Tang+CSM%22">Tang CSM</searchLink>; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. claratang@hku.hk.; Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institute Collaboration in Regenerative Medicine, Hong Kong SAR, China. claratang@hku.hk.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2022 Mar 21; Vol. 7 (1), pp. 23. <i>Date of Electronic Publication: </i>2022 Mar 21.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35314707
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41525-022-00287-z
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 23
    Titles:
      – TitleFull: Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Chau JFT
      – PersonEntity:
          Name:
            NameFull: Yu MHC
      – PersonEntity:
          Name:
            NameFull: Chui MMC
      – PersonEntity:
          Name:
            NameFull: Yeung CCW
      – PersonEntity:
          Name:
            NameFull: Kwok AWC
      – PersonEntity:
          Name:
            NameFull: Zhuang X
      – PersonEntity:
          Name:
            NameFull: Lee R
      – PersonEntity:
          Name:
            NameFull: Fung JLF
      – PersonEntity:
          Name:
            NameFull: Lee M
      – PersonEntity:
          Name:
            NameFull: Mak CCY
      – PersonEntity:
          Name:
            NameFull: Ng NYT
      – PersonEntity:
          Name:
            NameFull: Chung CCY
      – PersonEntity:
          Name:
            NameFull: Chan MCY
      – PersonEntity:
          Name:
            NameFull: Tsang MHY
      – PersonEntity:
          Name:
            NameFull: Chan JCK
      – PersonEntity:
          Name:
            NameFull: Chan KYK
      – PersonEntity:
          Name:
            NameFull: Kan ASY
      – PersonEntity:
          Name:
            NameFull: Chung PHY
      – PersonEntity:
          Name:
            NameFull: Yang W
      – PersonEntity:
          Name:
            NameFull: Lee SL
      – PersonEntity:
          Name:
            NameFull: Chan GCF
      – PersonEntity:
          Name:
            NameFull: Tam PKH
      – PersonEntity:
          Name:
            NameFull: Lau YL
      – PersonEntity:
          Name:
            NameFull: Yeung KS
      – PersonEntity:
          Name:
            NameFull: Chung BHY
      – PersonEntity:
          Name:
            NameFull: Tang CSM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 21
              M: 03
              Text: 2022 Mar 21
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 2056-7944
          Numbering:
            – Type: volume
              Value: 7
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: NPJ genomic medicine
              Type: main
ResultId 1