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

作者: KONRAD J. KARCZEWSKI , ROBERT P. TIRRELL , PABLO CORDERO , NICHOLAS P. TATONETTI , JOEL T. DUDLEY

DOI: 10.1142/9789814366496_0033

关键词:

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

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