How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010

Maija R J Kohonen-Corish, Jumana Y. Al-Aama, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Béroud, John Burn, Fiona Cunningham, Garry R. Cutting, Johan T. Den Dunnen, Marc S. Greenblatt, Jim Kaput, Michael Katz, Annika Lindblom, Finlay Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Raj Ramesar & 8 others Carolyn (Sue) Richards, Daniela Seminara, María Jesús Sobrido, Sean Tavtigian, Graham Taylor, Mauno Vihinen, Ingrid Winship, Richard G H Cotton

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

The third Human Variome Project (HVP) Meeting "Integration and Implementation" was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10-14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access-Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access-Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease-specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium.

Original languageEnglish (US)
Pages (from-to)1374-1381
Number of pages8
JournalHuman Mutation
Volume31
Issue number12
DOIs
StatePublished - Dec 2010

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Keywords

  • Genetic disease
  • Genomics
  • Mutation
  • Variation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Kohonen-Corish, M. R. J., Al-Aama, J. Y., Auerbach, A. D., Axton, M., Barash, C. I., Bernstein, I., ... Cotton, R. G. H. (2010). How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010. Human Mutation, 31(12), 1374-1381. https://doi.org/10.1002/humu.21379

How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010. / Kohonen-Corish, Maija R J; Al-Aama, Jumana Y.; Auerbach, Arleen D.; Axton, Myles; Barash, Carol Isaacson; Bernstein, Inge; Béroud, Christophe; Burn, John; Cunningham, Fiona; Cutting, Garry R.; Den Dunnen, Johan T.; Greenblatt, Marc S.; Kaput, Jim; Katz, Michael; Lindblom, Annika; Macrae, Finlay; Maglott, Donna; Möslein, Gabriela; Povey, Sue; Ramesar, Raj; Richards, Carolyn (Sue); Seminara, Daniela; Sobrido, María Jesús; Tavtigian, Sean; Taylor, Graham; Vihinen, Mauno; Winship, Ingrid; Cotton, Richard G H.

In: Human Mutation, Vol. 31, No. 12, 12.2010, p. 1374-1381.

Research output: Contribution to journalArticle

Kohonen-Corish, MRJ, Al-Aama, JY, Auerbach, AD, Axton, M, Barash, CI, Bernstein, I, Béroud, C, Burn, J, Cunningham, F, Cutting, GR, Den Dunnen, JT, Greenblatt, MS, Kaput, J, Katz, M, Lindblom, A, Macrae, F, Maglott, D, Möslein, G, Povey, S, Ramesar, R, Richards, CS, Seminara, D, Sobrido, MJ, Tavtigian, S, Taylor, G, Vihinen, M, Winship, I & Cotton, RGH 2010, 'How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010', Human Mutation, vol. 31, no. 12, pp. 1374-1381. https://doi.org/10.1002/humu.21379
Kohonen-Corish MRJ, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I et al. How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010. Human Mutation. 2010 Dec;31(12):1374-1381. https://doi.org/10.1002/humu.21379
Kohonen-Corish, Maija R J ; Al-Aama, Jumana Y. ; Auerbach, Arleen D. ; Axton, Myles ; Barash, Carol Isaacson ; Bernstein, Inge ; Béroud, Christophe ; Burn, John ; Cunningham, Fiona ; Cutting, Garry R. ; Den Dunnen, Johan T. ; Greenblatt, Marc S. ; Kaput, Jim ; Katz, Michael ; Lindblom, Annika ; Macrae, Finlay ; Maglott, Donna ; Möslein, Gabriela ; Povey, Sue ; Ramesar, Raj ; Richards, Carolyn (Sue) ; Seminara, Daniela ; Sobrido, María Jesús ; Tavtigian, Sean ; Taylor, Graham ; Vihinen, Mauno ; Winship, Ingrid ; Cotton, Richard G H. / How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010. In: Human Mutation. 2010 ; Vol. 31, No. 12. pp. 1374-1381.
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