MedSavant: An open source platform for personal genome interpretation.

Abstract

A key challenge in the broad deployment of personalized genomic medicine is the processing and interpretation of patients genomes in the context of their clinical indications. To address this challenge we developed MedSavant, an open-source, appbased platform facilitating the organization, storage, annotation, search, and visualization of patient genomes. MedSavant is accessible to geneticists of all levels of computational expertise, can be installed locally or in a scalable cloud environment, and is freely available (open source) at http://medsavant.org.

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