How to Catch All Those Mutations-The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

被引：26

作者：

Kohonen-Corish, Maija R. J. ^{[1
]}

Al-Aama, Jumana Y. ^{[2
,3
]}

Auerbach, Arleen D. ^{[4
]}

Axton, Myles ^{[5
]}

Barash, Carol Isaacson ^{[6
]}

Bernstein, Inge ^{[7
]}

Beroud, Christophe ^{[8
]}

Burn, John ^{[9
]}

Cunningham, Fiona ^{[10
]}

Cutting, Garry R. ^{[11
]}

den Dunnen, Johan T. ^{[12
]}

Greenblatt, Marc S. ^{[13
]}

Kaput, Jim ^{[14
]}

Katz, Michael ^{[15
]}

Lindblom, Annika ^{[16
]}

Macrae, Finlay ^{[17
,18
]}

Maglott, Donna ^{[19
]}

Moeslein, Gabriela ^{[20
]}

Povey, Sue ^{[21
]}

Ramesar, Raj ^{[22
]}

Richards, Sue ^{[23
]}

Seminara, Daniela ^{[24
]}

Sobrido, Maria-Jesus ^{[25
]}

Tavtigian, Sean ^{[26
]}

Taylor, Graham ^{[27
]}

Vihinen, Mauno ^{[28
,29
]}

Winship, Ingrid ^{[30
]}

Cotton, Richard G. H. ^{[31
]}

机构：

[1] Univ NSW, St Vincents Clin Sch, Garvan Inst Med Res, Canc Res Program, Sydney, NSW 2010, Australia

[2] King Abdulaziz Univ, Dept Med Genet, Fac Med, Jeddah 21413, Saudi Arabia

[3] King Abdulaziz Univ, Princess Al Jawhara Ctr Excellence Res Hereditary, Jeddah 21413, Saudi Arabia

[4] Rockefeller Univ, Program Human Genet & Hematol, New York, NY 10021 USA

[5] Nat Publishing Grp, New York, NY USA

[6] Boston Univ, Dept Philosophy Genet Eth & Policy Consulting, Boston, MA 02215 USA

[7] Hvidovre Univ Hosp, Dept Surg Gastroenterol, Copenhagen, Denmark

[8] Univ Montpellier I, Hop Arnaud Villeneuve, Genet Mol Lab, INSERM,U827, Montpellier, France

[9] Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[10] EBI, Cambridge CB10 1SD, England

[11] Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD USA

[12] Leiden Univ, Med Ctr, Leiden, Netherlands

[13] Univ Vermont, Coll Med, Burlington, VT USA

[14] US FDA, Div Personalized Nutr & Med, Natl Ctr Toxicol Res, Jefferson, AR USA

[15] March Dimes Fdn, White Plains, NY USA

[16] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden

[17] Dept Colorectal Med & Genet, Parkville, Vic, Australia

[18] Univ Melbourne, Royal Melbourne Hosp, Dept Med, Parkville, Vic, Australia

[19] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20892 USA

[20] HELIOS St Josefs Hosp, Bochum, Germany

[21] UCL, Div Life Sci, London, England

[22] Univ Cape Town, Inst Infect Dis & Mol Med, Div Human Genet, MRC Human Genet Res Unit, ZA-7700 Rondebosch, South Africa

[23] Oregon Hlth & Sci Univ, Portland, OR 97201 USA

[24] NCI, Bethesda, MD 20892 USA

[25] Inst Hlth Carlos III, Ctr Biomed Network Res Rare Disorders CIBERER, Fdn Publ Galega Med Xenom, Madrid, Spain

[26] Univ Utah, Sch Med, Huntsman Canc Inst, Dept Oncol Sci, Salt Lake City, UT USA

[27] St James Univ Hosp, Leeds, W Yorkshire, England

[28] Univ Tampere, Inst Med Technol, FIN-33101 Tampere, Finland

[29] Tampere Univ Hosp, Res Ctr, Tampere, Finland

[30] Univ Melbourne, Royal Melbourne Hosp, Melbourne, Vic 3050, Australia

[31] Genom Disorders Res Ctr, Melbourne, Vic, Australia

来源：

HUMAN MUTATION | 2010年 / 31卷 / 12期

关键词：

mutation; variation; genomics; genetic disease; RECOMMENDATIONS;

D O I：

10.1002/humu.21379

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. Hum Mutat 31:1374-1381, 2010. (c) 2010 Wiley-Liss, Inc.

引用

页码：1374 / 1381

页数：8

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