Abstract
Exponential Growth Effects Humans are an extraordinarily successful species, as measured by our large population size—approximately 7 billion—much of which can be put down to recent explosive growth. Leveraging human genomic data, Keinan and Clark (p. 740 ) examined the effects of population growth on our ability to detect rare genetic variants, those hypothesized to be most likely associated with disease. It appears that rapid recent growth increases the load of rare variants and is likely to play an important role in the individual genetic burden of complex disease risk.
Keywords
Affiliated Institutions
Related Publications
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...
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...
The history of effective population size and genetic diversity in the Yellowstone grizzly ( <i>Ursus arctos</i> ): Implications for conservation
Protein, mtDNA, and nuclear microsatellite DNA analyses have demonstrated that the Yellowstone grizzly bear has low levels of genetic variability compared with other Ursus arcto...
Power and sample size calculations for Mendelian randomization studies using one genetic instrument
Mendelian randomization, which is instrumental variable analysis using genetic variants as instruments, is an increasingly popular method of making causal inferences from observ...
Smooth Skyride through a Rough Skyline: Bayesian Coalescent-Based Inference of Population Dynamics
Kingman's coalescent process opens the door for estimation of population genetics model parameters from molecular sequences. One paramount parameter of interest is the effective...
Publication Info
- Year
- 2012
- Type
- article
- Volume
- 336
- Issue
- 6082
- Pages
- 740-743
- Citations
- 595
- Access
- Closed
External Links
Social Impact
Social media, news, blog, policy document mentions
Citation Metrics
Cite This
Identifiers
- DOI
- 10.1126/science.1217283