作者: Brett M. Kroncke , Carlos G. Vanoye , Jens Meiler , Alfred L. George , Charles R. Sanders
DOI: 10.1021/ACS.BIOCHEM.5B00189
关键词:
摘要: Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal information to help diagnose, treat, even prevent disorders which genetic variations are causative or known be risk factors. Many the exploding number newly discovered alter structure, function, dynamics, stability, and/or interactions specific proteins RNA molecules. Accordingly, there a host opportunities biochemists biophysicists participate in (1) developing tools allow accurate sometimes medically actionable assessment potential pathogenicity individual (2) establishing mechanistic linkage between pathogenic their physiological consequences, providing rational basis treatment preventive care. In this review, we provide an overview these associated challenges light current status genomic science pe...