Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples.

ABSTRACT: Population allele frequency is crucially important for accurate interpretation of known and novel variants in medical genetics. Recently, several large allele frequency databases, such as the Genome Aggregation Database (gnomAD), have been created to serve as a global reference for such studies. However, frequencies of many rare alleles vary dramatically between populations, and population-specific allele frequency is often more informative than the global one. Many countries and regions, including Russia, remain poorly studied from the genetic perspective. Here, we report the first successful attempt to integrate genetic information between major medical genetic laboratories in Russia. We construct RUSeq, an open, large-scale reference set of genetic variants by analyzing 7452 exome sampl

SUBMITTER: Barbitoff YA 

PROVIDER: S-EPMC11533896 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature