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; Sue Richards; Daniela Seminara; María-Jesús Sobrido; Sean Tavtigian; Graham Taylor; Mauno Vihinen; Ingrid Winship; Richard G H Cotton; NN NN

doi:10.1002/humu.21379

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 RamesarSue Richards, Daniela Seminara, María-Jesús Sobrido, Sean Tavtigian, Graham Taylor, Mauno Vihinen, Ingrid Winship, Richard G H Cotton, NN NN

Institut for Klinisk Medicin

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

32 Citationer (Scopus)

Abstract

Udgivelsesdato: 2010-Dec

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	31
Udgave nummer	12
Sider (fra-til)	1374-81
Antal sider	7
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.21379
Status	Udgivet - 2010

Bibliografisk note

Adgang til dokumentet

10.1002/humu.21379

Citationsformater

Kohonen-Corish, M. R. J., Al-Aama, J. Y., Auerbach, A. D., Axton, M., Barash, C. I., Bernstein, I., Béroud, C., Burn, J., Cunningham, F., Cutting, G. R., den Dunnen, J. T., Greenblatt, M. S., Kaput, J., Katz, M., Lindblom, A., Macrae, F., Maglott, D., Möslein, G., Povey, S., ... NN, NN. (2010). How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation, 31(12), 1374-81. https://doi.org/10.1002/humu.21379

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, S, Seminara, D, Sobrido, M-J, Tavtigian, S, Taylor, G, Vihinen, M, Winship, I, Cotton, RGH & NN, NN 2010, 'How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010', Human Mutation, bind 31, nr. 12, s. 1374-81. https://doi.org/10.1002/humu.21379

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title = "How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010",

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.",

author = "Kohonen-Corish, {Maija R J} and Al-Aama, {Jumana Y} and Auerbach, {Arleen D} and Myles Axton and Barash, {Carol Isaacson} and Inge Bernstein and Christophe B{\'e}roud and John Burn and Fiona Cunningham and Cutting, {Garry R} and {den Dunnen}, {Johan T} and Greenblatt, {Marc S} and Jim Kaput and Michael Katz and Annika Lindblom and Finlay Macrae and Donna Maglott and Gabriela M{\"o}slein and Sue Povey and Raj Ramesar and Sue Richards and Daniela Seminara and Mar{\'i}a-Jes{\'u}s Sobrido and Sean Tavtigian and Graham Taylor and Mauno Vihinen and Ingrid Winship and Cotton, {Richard G H} and NN NN",

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doi = "10.1002/humu.21379",

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AU - Kohonen-Corish, Maija R J

AU - Al-Aama, Jumana Y

AU - Auerbach, Arleen D

AU - Axton, Myles

AU - Barash, Carol Isaacson

AU - Bernstein, Inge

AU - Béroud, Christophe

AU - Burn, John

AU - Cunningham, Fiona

AU - Cutting, Garry R

AU - den Dunnen, Johan T

AU - Greenblatt, Marc S

AU - Kaput, Jim

AU - Katz, Michael

AU - Lindblom, Annika

AU - Macrae, Finlay

AU - Maglott, Donna

AU - Möslein, Gabriela

AU - Povey, Sue

AU - Ramesar, Raj

AU - Richards, Sue

AU - Seminara, Daniela

AU - Sobrido, María-Jesús

AU - Tavtigian, Sean

AU - Taylor, Graham

AU - Vihinen, Mauno

AU - Winship, Ingrid

AU - Cotton, Richard G H

AU - NN, NN

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

U2 - 10.1002/humu.21379

DO - 10.1002/humu.21379

M3 - Journal article

SN - 1059-7794

VL - 31

SP - 1374

EP - 1381

JO - Human Mutation

JF - Human Mutation

IS - 12

ER -