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

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...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Barbitoff, Yury A., Skitchenko, Rostislav K., Poleshchuk, Olga I., Shikov, Anton E., Serebryakova, Elena A., Nasykhova, Yulia A., Polev, Dmitrii E., Shuvalova, Anna R., Shcherbakova, Irina V., Fedyakov, Mikhail A., Glotov, Oleg S., Glotov, Andrey S., Predeus, Alexander V.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2019
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825859/
https://ncbi.nlm.nih.gov/pubmed/31482689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.964
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