A systematic approach to assessing the clinical significance of genetic variants.

ABSTRACT: Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and their family members. Recent advances in low-cost, high-throughput DNA sequencing and computing technologies have enabled the rapid expansion of genetic test content, resulting in dramatically increased numbers of DNA variants identified per test. To address this challenge, our laboratory has developed a systematic approach to thorough and efficient assessments of variants for pathogenicity determination. We first search for existing data in publications and databases including internal, collaborative and public resources. We then perform full evidence-based assessments through statistical analyses of observations in the general population and disease cohorts, evaluation of experimental data from i

SUBMITTER: Duzkale H 

PROVIDER: S-EPMC3995020 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature