Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

ABSTRACT: Next-generation sequencing (NGS) technology has improved enough to discover mutations associated with genetic diseases. Our study evaluated the feasibility of targeted NGS as a primary screening tool to detect causal variants and subsequently predict genetic diseases. We performed parallel computations on 3.7-megabase-targeted regions to detect disease-causing mutations in 103 participants consisting of 81 patients and 22 controls. Data analysis of the participants took about 6 hours using local databases and 200 nodes of a supercomputer. All variants in the selected genes led on average to 3.6 putative diseases for each patient while variants restricted to disease-causing genes identified the correct disease. Notably, only 12% of predicted causal variants were recorded as causal mutations

SUBMITTER: Cho Y 

PROVIDER: S-EPMC5574920 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature