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Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia

3 Sept 2019

Abstract excerpt

BACKGROUND: 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. METHODS: In this work, we leveraged...

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PMID: 31482689
DOI: 10.1002/mgg3.964

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