Introducing MedSavant
MedSavant is a software platform for accelerating the identification of disease-causing genetic variants found in population sequencing studies by enabling complex and dynamic querying of patient data. The platform is comprised of two parts: a graphical interface and a backend database.
The database is designed to securely store patient data across three main axes: (1) basic patient data: e.g. age, sex, and pedigree (2) phenotype data: e.g. disease, signs, and symptoms (3) genotype data: e.g. candidate variants, their types, and genomic locations.
The client-side interface enables users to dynamically visualize global trends in the data, construct complex queries, and analyze the results. MedSavant also supports filters that are generated from external datasources, such as whether or not the variation has been discovered before (using dbSNP data), is predicted to be damaging (using SIFT or Polyphen annotations), is found in genes having a pertinent function (using the GO ontology), or has been associated with a related disease (using OMIM data). Furthermore, MedSavant can be integrated with the Savant Genome Browser, for manual inspection of the read alignment data supporting the most likely causal variants found in the filtration process.
Questions, comments, or suggestions are welcome via e-mail to: support [at] savantbrowser [dot] com.
