Aug 22, 2013

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

Journal of Molecular Biology
Thomas A PetersonMaricel G Kann

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 information about these genetic variants and their functional and phenotypic associations is currently buried in the literature, only accessible by manual curation or sophisticated text text-mining technology to extract the relevant information. In addition, the low cost of sequencing technologies coupled with increasing computational power has enabled the development of numerous computational methodologies to predict the pathogenicity of human varian...Continue Reading

Mentioned in this Paper

Genome-Wide Association Study
Drug Response
Prostatic Neoplasms
PNN gene
Genome
Enzymes, antithrombotic
Post-Translational Protein Processing
G-Protein-Coupled Receptors
Impacted Tooth
Amino Acids, I.V. solution additive

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