Your browser doesn't support javascript.
loading
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Stark, Zornitza; Foulger, Rebecca E; Williams, Eleanor; Thompson, Bryony A; Patel, Chirag; Lunke, Sebastian; Snow, Catherine; Leong, Ivone U S; Puzriakova, Arina; Daugherty, Louise C; Leigh, Sarah; Boustred, Christopher; Niblock, Olivia; Rueda-Martin, Antonio; Gerasimenko, Oleg; Savage, Kevin; Bellamy, William; Lin, Victor San Kho; Valls, Roman; Gordon, Lavinia; Brittain, Helen K; Thomas, Ellen R A; Taylor Tavares, Ana Lisa; McEntagart, Meriel; White, Susan M; Tan, Tiong Y; Yeung, Alison; Downie, Lilian; Macciocca, Ivan; Savva, Elena; Lee, Crystle; Roesley, Ain; De Fazio, Paul; Deller, Jane; Deans, Zandra C; Hill, Sue L; Caulfield, Mark J; North, Kathryn N; Scott, Richard H; Rendon, Augusto; Hofmann, Oliver; McDonagh, Ellen M.
Afiliação
  • Stark Z; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia. Electronic address: zornitza.stark@vcgs.org.au.
  • Foulger RE; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Williams E; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Thompson BA; University of Melbourne, Melbourne, VIC 3010, Australia; Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.
  • Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.
  • Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
  • Snow C; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Leong IUS; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Puzriakova A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Daugherty LC; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Leigh S; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Boustred C; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Niblock O; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Rueda-Martin A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Gerasimenko O; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Savage K; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Bellamy W; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Lin VSK; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
  • Valls R; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
  • Gordon L; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
  • Brittain HK; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Thomas ERA; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Guy's and St Thomas's NHS Trust, London SE1 9RS, UK.
  • Taylor Tavares AL; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • McEntagart M; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; St George's University Hospitals NHS Trust, London SW17 0QT, UK.
  • White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
  • Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
  • Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
  • Downie L; University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Macciocca I; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Lee C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Roesley A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • De Fazio P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Deller J; National Health Service England and National Health Service Improvement, London SE1 6LH, UK.
  • Deans ZC; National Health Service England and National Health Service Improvement, London SE1 6LH, UK.
  • Hill SL; National Health Service England and National Health Service Improvement, London SE1 6LH, UK.
  • Caulfield MJ; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • North KN; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Scott RH; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Rendon A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Hofmann O; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
  • McDonagh EM; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Open Targets and European Molecular Biology Laboratory - European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Am J Hum Genet ; 108(9): 1551-1557, 2021 09 02.
Article em En | MEDLINE | ID: mdl-34329581
ABSTRACT
Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Harmonization efforts are hampered by the lack of agreed terminology, agreed gene curation standards, and platforms that can be used to identify and resolve discrepancies at scale. We undertook a systematic comparison of the content of 80 virtual gene panels used in two healthcare systems by multiple diagnostic providers in the United Kingdom and Australia. The process was enabled by a shared curation platform, PanelApp, and resulted in the identification and review of 2,144 discordant gene ratings, demonstrating the utility of sharing structured gene-disease validity assessments and collaborative discordance resolution in establishing national and international consensus.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genômica / Consenso / Anotação de Sequência Molecular / Curadoria de Dados / Doenças Genéticas Inatas Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genômica / Consenso / Anotação de Sequência Molecular / Curadoria de Dados / Doenças Genéticas Inatas Idioma: En Ano de publicação: 2021 Tipo de documento: Article