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

Yury A BarbitoffRostislav K SkitchenkoOlga I PoleshchukAnton E ShikovElena A SerebryakovaYulia A NasykhovaDmitrii E PolevAnna R ShuvalovaIrina V ShcherbakovaMikhail A FedyakovOleg S GlotovAndrey S Glotov Alexander V Predeus

Published in: Molecular genetics & genomic medicine (2019)

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

Keyphrases

high throughput
risk factors
electronic health record
single cell
big data
machine learning