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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825859/
https://www.ncbi.nlm.nih.gov/pubmed/31482689
http://dx.doi.org/10.1002/mgg3.964

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825859/
https://www.ncbi.nlm.nih.gov/pubmed/31482689
http://dx.doi.org/10.1002/mgg3.964

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