Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions

This is the authors' abstract. We don't add key points for this paper.

The principles of the Hardy-Weinberg equilibrium (HWE) inform the frequency of genotypes within populations.1,2 Over time, meaningful real-world applications of HWE have emerged. In recent years, there has been an uptick in the number of publications evaluating the frequency of genetic conditions by applying principles of HWE to data primarily obtained from large publicly available genomic DNA sequence databases. Given the nuanced methods and the use of these studies to influence therapeutic development and public policy, a review of key considerations is of importance for physicians and other health professionals, geneticists, genetic counselors, statisticians, and public health experts among other specialists.