Towards precision medicine: advances in computational approaches for the analysis of human variants.

ABSTRACT: Variations and similarities in our individual genomes are part of our history, our heritage, and our identity. Some human genomic variants are associated with common traits such as hair and eye color, while others are associated with susceptibility to disease or response to drug treatment. Identifying the human variations producing clinically relevant phenotypic changes is critical for providing accurate and personalized diagnosis, prognosis, and treatment for diseases. Furthermore, a better understanding of the molecular underpinning of disease can lead to development of new drug targets for precision medicine. Several resources have been designed for collecting and storing human genomic variations in highly structured, easily accessible databases. Unfortunately, a vast amount of informat

SUBMITTER: Peterson TA 

PROVIDER: S-EPMC3807015 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature