"The molecule's the thing:" the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results. F1000Res 2016;5:766
Date
07/14/2016Pubmed ID
27408685Pubmed Central ID
PMC4920209DOI
10.12688/f1000research.8600.3Abstract
Clinical genomics is now a reality and lies at the heart of individualized medicine efforts. The success of these approaches is evidenced by the increasing volume of publications that report causal links between genomic variants and disease. In spite of early success, clinical genomics currently faces significant challenges in establishing the relevance of the majority of variants identified by next generation sequencing tests. Indeed, the majority of mutations identified are harbored by proteins whose functions remain elusive. Herein we describe the current scenario in genomic testing and in particular the burden of variants of uncertain significance (VUSs). We highlight a role for molecular modeling and molecular dynamic simulations as tools that can significantly increase the yield of information to aid in the evaluation of pathogenicity. Though the application of these methodologies to the interpretation of variants identified by genomic testing is not yet widespread, we predict that an increase in their use will significantly benefit the mission of clinical genomics for individualized medicine.
Author List
Oliver GR, Zimmermann MT, Klee EW, Urrutia RAAuthors
Raul A. Urrutia MD Center Director, Professor in the Surgery department at Medical College of WisconsinMichael T. Zimmermann PhD Director, Associate Professor in the Data Science Institute department at Medical College of Wisconsin
