Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

Source :

• Human Mutation [ 1059-7794 ] ; 2008-11.

Descripteurs français

• Wicri :
  • topic : Recherche médicale.

English descriptors

• KwdEn :
  • Allele, Allele frequency, Assay, Available data, Brca1, Brca2, Brca2 genes, Breast cancer, Cancer predisposition syndromes, Cancer risk, Causality, Cellular functions, Clinical communities, Clinical observations, Clinical significance, Computational predictions, Cosegregation, Different approaches, Different sources, Disease causality, Disease genes, Disease risk, Early onset, Easton, Family data, Family history, Fanconi anemia, Functional assays, Gene, Genet, Genet evans, Genetic, Genetic counseling, Genetic data, Genetic testing, Genetic variants, Goldgar, Grant number, Hereditary cancer syndromes, Hofstra, Human mutation, Iarc, Indirect evidence, Individual components, International agency, Kconfab investigators, Lake champlain cancer research organization, Large number, Likelihood ratios, Main disadvantage, Medical research, Microsatellite instability, Mismatch repair genes, Missense, Missense mutations, Missense variants, Mixture model, Mlh1, Msh2, Multiple individuals, Mutat, Mutation, National institutes, Neutral variant, Neutral variants, Novel variant, Null hypothesis, Null mutations, Other articles, Other evidence, Other hand, Particular variant, Pathogenic, Pathogenic missense variants, Pathogenic mutation, Pathogenic mutations, Pathogenic variant, Pathogenic variants, Pathogenicity, Penetrance, Penetrance function, Phenotype, Posterior odds, Posterior probability, Quantitative assessment, Queensland institute, Rare variants, Reference groups, Relevant research, Salt lake city, Same gene, Sequence variants, Sequence variation, Such data, Such variants, Syndrome, Systematic studies, Tavtigian, Tumor pathology, Uncertain variants, Unclassified variants, Unknown significance, Utah school, Variant, Various data sources, Various sources.
• Teeft :
  • Allele, Allele frequency, Assay, Available data, Brca1, Brca2, Brca2 genes, Breast cancer, Cancer predisposition syndromes, Cancer risk, Causality, Cellular functions, Clinical communities, Clinical observations, Clinical significance, Computational predictions, Cosegregation, Different approaches, Different sources, Disease causality, Disease genes, Disease risk, Early onset, Easton, Family data, Family history, Fanconi anemia, Functional assays, Gene, Genet, Genet evans, Genetic, Genetic counseling, Genetic data, Genetic testing, Genetic variants, Goldgar, Grant number, Hereditary cancer syndromes, Hofstra, Human mutation, Iarc, Indirect evidence, Individual components, International agency, Kconfab investigators, Lake champlain cancer research organization, Large number, Likelihood ratios, Main disadvantage, Medical research, Microsatellite instability, Mismatch repair genes, Missense, Missense mutations, Missense variants, Mixture model, Mlh1, Msh2, Multiple individuals, Mutat, Mutation, National institutes, Neutral variant, Neutral variants, Novel variant, Null hypothesis, Null mutations, Other articles, Other evidence, Other hand, Particular variant, Pathogenic, Pathogenic missense variants, Pathogenic mutation, Pathogenic mutations, Pathogenic variant, Pathogenic variants, Pathogenicity, Penetrance, Penetrance function, Phenotype, Posterior odds, Posterior probability, Quantitative assessment, Queensland institute, Rare variants, Reference groups, Relevant research, Salt lake city, Same gene, Sequence variants, Sequence variation, Such data, Such variants, Syndrome, Systematic studies, Tavtigian, Tumor pathology, Uncertain variants, Unclassified variants, Unknown significance, Utah school, Variant, Various data sources, Various sources.

Abstract

• https://api.istex.fr/document/398C382D942E916FD69248D4A4929F63D264E709/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936773

Affiliations:

• Australie, France, Royaume-Uni, États-Unis
• Angleterre, Angleterre de l'Est, Auvergne-Rhône-Alpes, Caroline du Nord, Rhône-Alpes, Utah, Vermont
• Cambridge, Lyon
• Université de Cambridge

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