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

ConclusionOur observations demonstrate the utility of population ‐specific allele frequency data to the diagnosis of monogenic disorders using high‐throughput technologies.

Source: Molecular Genetics & Genomic Medicine - September 2, 2019 Category: Genetics & Stem Cells Authors: Yury A. Barbitoff, Rostislav K. Skitchenko, Olga I. Poleshchuk, Anton E. Shikov, Elena A. Serebryakova, Yulia A. Nasykhova, Dmitrii E. Polev, Anna R. Shuvalova, Irina V. Shcherbakova, Mikhail A. Fedyakov, Oleg S. Glotov, Andrey S. Glotov, Alex Tags: ORIGINAL ARTICLE Source Type: research