Article
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
American journal of human genetics - 7 Dec 2012
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
Abstract excerpt
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 carried 281-515 missense substitutions, 40-85 of which were homozygous, predicted to be highly damaging. They also...
Topics
- Alleles
- Databases, Nucleic Acid
- Genome, Human
- Genome-Wide Association Study
- Humans
- Mutation Rate
- Mutation, Missense
- Prevalence