How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

Source :

• Human Mutation [ 1059-7794 ] ; 2010-12.

Descripteurs français

• Wicri :
  • topic : Consortium, Collecte de données, Base de données, Génétique, Recherche médicale, Ontologie, Unesco.

English descriptors

• KwdEn :
  • Access data, Advance variation data collection, American college, Biotechnology information, Central databases, Classification system, Clinical data, Clinical geneticists, Clinical genetics, Colorectal cancers, Complex sequence variants, Consortium, Copy number variant, Country node, Curation, Curator, Current framework, Data collection, Data transfer, Data types, Database, Database curators, Dbsnp reference numbers, Digital identifier, Disparate groups, Easy integration, Ethical issues, Family data, First meeting, Full report, Funding, Funding mechanisms, Garvan institute, Gen2phen project, Genet cotton, Genetic, Genetic disease, Genetic knowledge, Genetic medicine, Genetic variants, Genetic variation, Genetic variations, Genetics, Genome, Genomic disorders research center, Genotype, Healthcare, Hereditary breast, Hgnc gene names, Hgvs, Hgvs nomenclature, Hgvs recommendations, Hgvs website, Human disease, Human genetics, Human genome, Human genome project, Human health, Human mutation, Human variome, Human variome project, Human variome project meeting, Iarc system, Identifier, International society, Knowledge base, Locus reference genomic, Lsdb, Lsdb object model, Lsdbs, Medical genetics, Medical research, Meeting report, Melbourne, Micronutrient genomics project, Molecular medicine, Mutation, Mutation data, Mutation databases, National center, Natural successor, Neurogenetics consortium, Node, Ontology, Other resources, Overall data integration, Pathogenicity, Phenotype, Phenotype information, Phenotypic data, Pilot study, Public databases, Quality control, Rare disorders, Robust process, Royal melbourne hospital, Sequence format, Sequence variants, Software tools, Unclassified variants, Unesco, Unesco headquarters, Unesco patronage, Unnecessary duplication, Unpublished data, Variant, Variation databases, Variome, Versioning system, Walter erdelen, Website, Workgroup.
• Teeft :
  • Access data, Advance variation data collection, American college, Biotechnology information, Central databases, Classification system, Clinical data, Clinical geneticists, Clinical genetics, Colorectal cancers, Complex sequence variants, Consortium, Copy number variant, Country node, Curation, Curator, Current framework, Data collection, Data transfer, Data types, Database, Database curators, Dbsnp reference numbers, Digital identifier, Disparate groups, Easy integration, Ethical issues, Family data, First meeting, Full report, Funding, Funding mechanisms, Garvan institute, Gen2phen project, Genet cotton, Genetic, Genetic disease, Genetic knowledge, Genetic medicine, Genetic variants, Genetic variation, Genetic variations, Genetics, Genome, Genomic disorders research center, Genotype, Healthcare, Hereditary breast, Hgnc gene names, Hgvs, Hgvs nomenclature, Hgvs recommendations, Hgvs website, Human disease, Human genetics, Human genome, Human genome project, Human health, Human mutation, Human variome, Human variome project, Human variome project meeting, Iarc system, Identifier, International society, Knowledge base, Locus reference genomic, Lsdb, Lsdb object model, Lsdbs, Medical genetics, Medical research, Meeting report, Melbourne, Micronutrient genomics project, Molecular medicine, Mutation, Mutation data, Mutation databases, National center, Natural successor, Neurogenetics consortium, Node, Ontology, Other resources, Overall data integration, Pathogenicity, Phenotype, Phenotype information, Phenotypic data, Pilot study, Public databases, Quality control, Rare disorders, Robust process, Royal melbourne hospital, Sequence format, Sequence variants, Software tools, Unclassified variants, Unesco, Unesco headquarters, Unesco patronage, Unnecessary duplication, Unpublished data, Variant, Variation databases, Variome, Versioning system, Walter erdelen, Website, Workgroup.

Abstract

• https://api.istex.fr/document/085EF4EACC09E00A40B07EB352F796B4D6CAE1DA/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119486

Affiliations:

• Afrique du Sud, Allemagne, Arabie saoudite, Australie, Danemark, Espagne, Finlande, France, Pays-Bas, Royaume-Uni, Suède, États-Unis
• Angleterre, Arkansas, Grand Londres, Hollande-Méridionale, Hovedstaden, Languedoc-Roussillon, Maryland, Massachusetts, Occitanie (région administrative), Oregon, Svealand, Utah, Vermont, Victoria (État), État de New York
• Copenhague, Leyde, Londres, Melbourne, Montpellier, Stockholm
• Université Montpellier 1, Université de Melbourne

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 000168
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• to stream Istex, to step Checkpoint: 000B87
• to stream Pmc, to step Corpus: 001554
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• to stream Pmc, to step Checkpoint: 002570
• to stream Ncbi, to step Merge: 000901
• to stream Ncbi, to step Curation: 000901
• to stream Ncbi, to step Checkpoint: 000901
• to stream Main, to step Merge: 007806
• to stream Main, to step Curation: 007270

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