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DiGeST :Distributed Gene/Variant Scoring Tool

DiGeST is a gene/variant scoring tool, that takes as input two populations (case/control) of SNPs, and outputs a ranking of gene/variant according to their suspected pathogeneticity. It is composed of a front-end which allows a user to browse, filter and create groups of case and control SNPs, and a back-end that performs scoring and ranking in a distributed way, using the Map/Reduce programming model. Scalable storage and computing rely on Parquet file format over HDFS, and the Spark distributed computing framework, respectively.

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Distributed Gene/Variant Scoring Tool

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