8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada

Abstract

The 8th International HUGO‐Mutation Database Initiative Meeting was held on April 9, 2000, in Vancouver, Canada. Meeting highlights are here described. The discussion predominantly revolved around the concept of a central mutation database, which would serve as a repository of gene sequence variants for the community. Specifications for such a central database were prepared and presented by a working group including bioinformatics experts, LSDB operators, central database operators, and an industry representative. Refinement of the specifications and consideration of the implementation of such a database was conducted through a consortium of public and private collaborators and funding. Members were urged to generate broad community support for the project. Hum Mutat 16:265–268, 2000. © 2000 Wiley‐Liss, Inc.

Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

“…On distinguait jusqu'ici les collections gé né ralistes de donné es sur l'ensemble des gè nes (« mile wide and inch deep databases ») et les banques spé cialisé es dans l'analyse d'un gè ne responsable d'une maladie gé né tique (« inch wide and mile deep ») [2] (Tableau 1) [3]. Un troisiè me type de banque s'est dé veloppé ré cemment, plus spé cialisé dans les donné es ethniques et nationales [4].…”

Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

“…On distinguait jusqu'ici les collections gé né ralistes de donné es sur l'ensemble des gè nes (« mile wide and inch deep databases ») et les banques spé cialisé es dans l'analyse d'un gè ne responsable d'une maladie gé né tique (« inch wide and mile deep ») [2] (Tableau 1) [3]. Un troisiè me type de banque s'est dé veloppé ré cemment, plus spé cialisé dans les donné es ethniques et nationales [4].…”

Protein Databases

“…Formerly the HUGO Mutation Database Initiative, the Human Genome Variation Society (HGVS, Auerbach, 2000) was created to promote the discovery and free publication of information on the variations in human genes by fostering a central repository for such variations. There are hundreds of genomic databases or databases that revolve around specific mutations.…”

10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland

“…Funding was still seen as very important, and other options were discussed. An application for funding to the NIH became the focal point, especially since NIH sources had explicitly encouraged such an application [Auerbach, 2000]. The importance of incorporating some of the major extant databases (e.g., dbSNP, HGBASE) into the application was stressed.…”

Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

“…On distinguait jusqu'ici les collections gé né ralistes de donné es sur l'ensemble des gè nes (« mile wide and inch deep databases ») et les banques spé cialisé es dans l'analyse d'un gè ne responsable d'une maladie gé né tique (« inch wide and mile deep ») [2] (Tableau 1) [3]. Un troisiè me type de banque s'est dé veloppé ré cemment, plus spé cialisé dans les donné es ethniques et nationales [4].…”

Protein Databases

“…Formerly the HUGO Mutation Database Initiative, the Human Genome Variation Society (HGVS, Auerbach, 2000) was created to promote the discovery and free publication of information on the variations in human genes by fostering a central repository for such variations. There are hundreds of genomic databases or databases that revolve around specific mutations.…”

10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland

“…Funding was still seen as very important, and other options were discussed. An application for funding to the NIH became the focal point, especially since NIH sources had explicitly encouraged such an application [Auerbach, 2000]. The importance of incorporating some of the major extant databases (e.g., dbSNP, HGBASE) into the application was stressed.…”

Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

“…On distinguait jusqu'ici les collections gé né ralistes de donné es sur l'ensemble des gè nes (« mile wide and inch deep databases ») et les banques spé cialisé es dans l'analyse d'un gè ne responsable d'une maladie gé né tique (« inch wide and mile deep ») [2] (Tableau 1) [3]. Un troisiè me type de banque s'est dé veloppé ré cemment, plus spé cialisé dans les donné es ethniques et nationales [4].…”

Protein Databases

“…Formerly the HUGO Mutation Database Initiative, the Human Genome Variation Society (HGVS, Auerbach, 2000) was created to promote the discovery and free publication of information on the variations in human genes by fostering a central repository for such variations. There are hundreds of genomic databases or databases that revolve around specific mutations.…”

10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland

“…Funding was still seen as very important, and other options were discussed. An application for funding to the NIH became the focal point, especially since NIH sources had explicitly encouraged such an application [Auerbach, 2000]. The importance of incorporating some of the major extant databases (e.g., dbSNP, HGBASE) into the application was stressed.…”