Interpretome: A Freely Available, Modular, and Secure Personal Genome Interpretation Engine

Pac Symp Biocomput. 2012;339-350.

Abstract

The decreasing cost of genotyping and genome sequencing has ushered in an era of genomic personalized medicine. More than 100,000 individuals have been genotyped by direct-to-consumer genetic testing services, which offer a glimpse into the interpretation and exploration of a personal genome. However, these interpretations, which require extensive manual curation, are subject to the preferences of the company and are not customizable by the individual. Academic institutions teaching personalized medicine, as well as genetic hobbyists, may prefer to customize their analysis and have full control over the content and method of interpretation. We present the Interpretome, a system for private genome interpretation, which contains all genotype information in client-side interpretation scripts, supported by server-side databases. We provide state-of-the-art analyses for teaching clinical implications of personal genomics, including disease risk assessment and pharmacogenomics. Additionally, we have implemented client-side algorithms for ancestry inference, demonstrating the power of these methods without excessive computation. Finally, the modular nature of the system allows for plugin capabilities for custom analyses. This system will allow for personal genome exploration without compromising privacy, facilitating hands-on courses in genomics and personalized medicine.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Algorithms
  • Computational Biology
  • Continental Population Groups / genetics
  • Genetics, Population / statistics & numerical data
  • Genome, Human
  • Genomics / statistics & numerical data*
  • Genotype
  • Humans
  • Pharmacogenetics / statistics & numerical data
  • Polymorphism, Single Nucleotide
  • Precision Medicine / statistics & numerical data*
  • Search Engine
  • Software*
  • User-Computer Interface