Keywords
GeneticsBiologyMutationAlleleSelection (genetic algorithm)Identification (biology)Genetic variationMutation rateDiseaseGenetic predispositionEvolutionary biologyGeneComputer science
Affiliated Institutions
Related Publications
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casal...
Joint Inference of Microsatellite Mutation Models, Population History and Genealogies Using Transdimensional Markov Chain Monte Carlo
Abstract We provide a framework for Bayesian coalescent inference from microsatellite data that enables inference of population history parameters averaged over microsatellite m...
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
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 indivi...
The Genotype-Tissue Expression (GTEx) project.
Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain un...
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impa...
Publication Info
- Year
- 2001
- Type
- article
- Volume
- 69
- Issue
- 1
- Pages
- 124-137
- Citations
- 1219
- Access
- Closed
External Links
Social Impact
Altmetric
PlumX Metrics
Social media, news, blog, policy document mentions
Citation Metrics
1219
OpenAlex
Cite This
Jonathan K. Pritchard
(2001).
Are Rare Variants Responsible for Susceptibility to Complex Diseases?.
The American Journal of Human Genetics
, 69
(1)
, 124-137.
https://doi.org/10.1086/321272
Identifiers
- DOI
- 10.1086/321272