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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Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Original Articles
Online pristup: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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