Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.
Allele frequency data from large exome and genome aggregation projects such as the Genome Aggregation Database (gnomAD) are of ultimate importance to the interpretation of medical resequencing data. However, allele frequencies might significantly differ in poorly studied populations that are underre...
Published in: | Molecular Genetics & Genomic Medicine |
---|---|
Main Authors: | , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Wiley
2019
|
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.964 https://pubmed.ncbi.nlm.nih.gov/31482689 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825859/ |
Summary: | Allele frequency data from large exome and genome aggregation projects such as the Genome Aggregation Database (gnomAD) are of ultimate importance to the interpretation of medical resequencing data. However, allele frequencies might significantly differ in poorly studied populations that are underrepresented in large-scale projects, such as the Russian population. |
---|