Calculating Linkage Disequilibrium in Human Populations of Interest Description LDlinkis an interactive and powerful suite of web-based tools for querying germline variants in human population groups of interest to generate interactive tables and plots. All population genotype data originates from Phase 3...
Here we describe a method, named SORVA for Significance Of Rare VAriants, for ranking genes based on mutational burden. In addition to incorporating information from variant allele frequencies, we use population-derived data to precompute an unbiased, easily interpretable score, which allows one to ...
Final mean allele frequencies varied from 0.0005 to over 0.50, depending on the parameters. Conclusion The results of the simulations illustrate that, while genetic data may be sensitive and powerful in large genetic studies, caution must be used when applying genetic information to small, recent ...