Article

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

2021-11-04

Abstract excerpt

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 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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f8f6a3a6-1bd2-57e6-ad31-2847bf285f71
DOI: 10.1101/2021.11.02.21265801

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samplesDOI 10.1101/2021.11.02.21265801Read

Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest RussiaSemantic proximity Read

Understanding Complex Trait Susceptibilities and Ethnical Diversity in a Sample of 4,145 Russians Through Analysis of Clinical and Genetic DataSemantic proximity Read

The genetic structure of the Turkish population reveals high levels of variation and admixture.Semantic proximity Read

Complex trait susceptibilities and population diversity in a sample of 4,145 Russians.Semantic proximity Read

‘The Thousand Polish Genomes Project’ - a national database of Polish variant allele frequenciesSemantic proximity Read

The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.Semantic proximity Read

Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease ModelSemantic proximity Read

The first insight into the genetic structure of the population of modern SerbiaSemantic proximity Read

Genome diversity in Ukraine.Semantic proximity Read

Introduction to 1000 Genomes Project and IGSR data resourcesSemantic proximity Read

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.Semantic proximity Read

The first insight into the genetic structure of the population of modern Serbia.Semantic proximity Read