Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

• Published in: American journal of human genetics Vol. 91; no. 6; pp. 1022 - 1032
• Main Authors: Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David N., Tyler-Smith, Chris
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 07.12.2012; Cell Press; Elsevier
• Subjects: Alleles; Biological and medical sciences; Databases, Nucleic Acid; Fundamental and applied biological sciences. Psychology; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genome-Wide Association Study; Human Genome Project; Humans; Medical genetics; Medical sciences; Molecular and cellular biology; Mutation; Mutation Rate; Mutation, Missense; Polymorphism; Prevalence; Human; Allele; Prevalence; Disease; Evaluation scale; Prediction; Database; Genetics; Population; Mutation; Predictive factor; Public health

We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 individuals in the 1000 Genomes Pilot Project and (2) current predictions and databases of deleterious variants. Each individual...