HVP5: Meeting summary and thoughts - Garry Cutting
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HVP5: Meeting summary and thoughts - Garry Cutting

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HVP5: Meeting summary and thoughts - Garry Cutting HVP5: Meeting summary and thoughts - Garry Cutting Presentation Transcript

  • Meeting summary and thoughts Garry Cutting, MD McKusick Nathans Institute of Genetic Medicine Johns Hopkins sharing data · reducing disease an NGO Official Partner of UNESCO
  • Kudos Scientific Programme Committee Richard G. H. Cotton (Melbourne, Australia) Raymond Dalgleish (Leicester, United Kingdom) Johan T. den Dunnen (Leiden, Netherlands) Marc Greenblatt (Burlington, VT, United States) Aida Falcon de Vargas (Caracas, Venezuela) Finlay Macrae (Melbourne, Australia) Martina Witsch-Baumgartner (Innsbruck, Austria) Organising Secretariat Rania Horaitis, ICO Heather Howard, ICO Helen Robinson , ICO Timothy Smith, ICO Casimiro Vizzini, UNESCO
  • And finish on time Don’t be boring
  • Annotating variation in the human genome • The challenge • Potential solutions The Cambridge Wine Blogger http://cambridgewineblogger.blogspot.com/2011/06/on- breadth-vs-depth-in-tasting.html
  • Stylianos Antonarakis, Session VIII
  • Rapid increase in the number of genes associated with mendelian phenotypes Source: OMIM Years Numberofgenes
  • Number of variants reported per gene in the Leiden Open Variation Database (LOVD) Variants from LOVD databases version 2.0-24 or higher and with properly configured reference sequences were used to extract the number of unique alleles reported per gene. If a gene was present in multiple databases (duplicate instances), the raw data was parsed such that the highest number of variants per a given gene was reported. Data courtesy of Ivo F.A.C. Fokkema and Johan T. den Dunnen. Figures courtesy of Melissa Lee Cutting GR AJHG 2014
  • • Increasing number of genes associated with mendelian disease • Increasing number of variants per gene Perfect Storm of Variants
  • Interpretive gap: Difference between rate of variant discovery and rate of variant annotation Variants identified Interpretive gap Annotated Cost of sequencing Time $$ Cutting GR AJHG 2014
  • Quantifying the interpretive gap CFTR 137 for OMIM, 1301 for HGMD, 345 for LOVD HBA1 HBB Gene matched counts of variants per gene, sorted by length
  • Christopher Cassa, Session X
  • Stylianos Antonarakis, Session VIII
  • Thomy de Ravel, Session II
  • Nik Nor Liza Nik Hassan, Session II
  • Raj Ramesar, Session III
  • Dwomoa Adu, Session III
  • Enock Matovu, Session III
  • Stylianos Antonarakis, Session VIII
  • Ted Kalbfleisch, Session IV
  • Moris Swertz, Session IV
  • Stylianos Antonarakis, Session VIII
  • Peter Taschner, Session V
  • Raymond Dalgleish, Session V
  • Ada Hamosh, Session V
  • Stylianos Antonarakis, Session VIII
  • Hoan Nyugen, Session VIII
  • Tuuli Lappalainen, Session VIII
  • Variant Annotation Projects • INSiGHT: International Society for Gastrointestinal Hereditary Tumors – Mismatch repair genes (Thompson et al Nat Genet 2014) • CFTR2: Clinical and Functional Translation of CFTR – CFTR (Sosnay et al Nat Genet 2013) • ENIGMA :Evidence-based Network for the Interpretation of Germline Mutant Alleles – BRCA 1/2 sharing data · reducing disease an NGO Official Partner of UNESCO
  • Maurizio Genuardi, Session IX
  • Finlay Macrae, Session IX
  • Christopher Cassa, Session X
  • Standards Development & Recommended Systems • HGVS variation nomenclature • Mutalyzer • LOVD • VarioML • Variation Ontology (VariO) • W01:Disclaimer Statements on G/DSDBs • WG02: Assigning Pathogenicity to a Genetic Variant • WG03 Minimal content for gene variant databases (LSDBS) • WG04 Minimum Content Requirements for HVP Country Nodes • WG05: Variant Database Quality Assessment • WG06: Disease &Phenotype Descriptions in Gene/Disease Specific Databases sharing data · reducing disease an NGO Official Partner of UNESCO
  • Summary
  • Thank you for attending HVP5 sharing data · reducing disease an NGO Official Partner of UNESCO