Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples
Yury A. Barbitoff, Хмелькова Дарья Николаевна, Ekaterina A. Pomerantseva, Aleksandr V. Slepchenkov, Nikita A. Zubashenko, И. В. Миронова, Vladimir Kaimonov, Dmitrii E. Polev, Victoria V. Tsay, Andrey Sergeyevich Glotov, Mikhail V. Aseev, Sergey G. Shcherbak, Oleg S. Glotov, Arthur A Isaev, Alexander V. Predeus
The paper integrates exome data from 7,452 Russian samples to create a population-specific allele frequency reference, identifying rare variants and clusters within the Russian population.
National Science Review · Sep 13, 2024Peer-reviewedGenetic & Genomic Medicine