Interpretome: a freely available, modular, and secure personal genome interpretation engine.

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,

SUBMITTER: Karczewski KJ 

PROVIDER: S-EPMC4809242 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature