Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
- Author
- YALI XUE1 ; YUAN CHEN1 ; TYLER-SMITH, Chris1 ; AYUB, Qasim1 ; NI HUANG1 ; BALL, Edward V2 ; MORT, Matthew2 ; PHILLIPS, Andrew D2 ; SHAW, Katy2 ; STENSON, Peter D2 ; COOPER, David N2
[1] The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom
[2] Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, United Kingdom
The 1000 Genomes Project Consortium - Source
American journal of human genetics. 2012, Vol 91, Num 6, pp 1022-1032, 11 p ; ref : 44 ref
- Publisher
- Cell Press, Cambridge, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allèle Base de données Echelle d'évaluation Facteur prédictif Génétique Homme Maladie Mutation Population Prédiction Prévalence Santé publique
- Keyword (en)
- Allele Database Evaluation scale Predictive factor Genetics Human Disease Mutation Population Prediction Prevalence Public health
- Keyword (es)
- Alelo Base dato Escala evaluación Factor predictivo Genética Hombre Enfermedad Mutación Población Predicción Prevalencia Salud pública
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26711354
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1016/j.ajhg.2012.10.015 
https://dx.doi.org/10.1016/j.ajhg.2012.10.015
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