title: 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, 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.
authors.affiliation: Training Program in Biomedical Informatics, Stanford University School of Medicine, Stanford, CA 94305, USA.|Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Konrad J
authors.initials: KJ
authors.lastname: Karczewski
authors.affiliation: Training Program in Biomedical Informatics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Robert P
authors.initials: RP
authors.lastname: Tirrell
authors.affiliation: Training Program in Biomedical Informatics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Pablo
authors.initials: P
authors.lastname: Cordero
authors.affiliation: Training Program in Biomedical Informatics, Stanford University School of Medicine, Stanford, CA 94305, USA.|Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Nicholas P
authors.initials: NP
authors.lastname: Tatonetti
authors.affiliation: Training Program in Biomedical Informatics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Joel T
authors.initials: JT
authors.lastname: Dudley
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Keyan
authors.initials: K
authors.lastname: Salari
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Snyder
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Russ B
authors.initials: RB
authors.lastname: Altman
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.|Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Stuart K
authors.initials: SK
authors.lastname: Kim
mesh_terms: D000465:Algorithms; D019295:Computational Biology; D005828:Genetics, Population / Q000706:statistics & numerical data; D015894:Genome, Human; D023281:Genomics / Q000706:statistics & numerical data*; D005838:Genotype; D006801:Humans; D010597:Pharmacogenetics / Q000706:statistics & numerical data; D020641:Polymorphism, Single Nucleotide; D057285:Precision Medicine / Q000706:statistics & numerical data*; D044469:Racial Groups / Q000235:genetics; D057386:Search Engine; D012984:Software; D014584:User-Computer Interface