Genetic predisposition to hypouricemia on whole-exome sequencing analysis and its utilities in primary screening purposes
Do Hyeon Cha, Heon Yung Gee, Raúl E. Cachau, Jong Mun Choi, Daeui Park, Sun Ha Jee, Seungho Ryu, Kyeong Kyu Kim, Cheryl Ann Winkler, Sung Kweon Cho
This paper uses whole-exome sequencing to identify genetic markers for hypouricemia and shows that screening two SNPs can detect 87.7% of cases.
bioRxiv · Nov 8, 2018 · PreprintGenetics