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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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Accés en línia: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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