Publications

PloS one. 2015-01-01; 10.9: e0116815.

Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver

Pham PH, Shipman WJ, Erikson GA, Schork NJ, Torkamani A

PMID: 25706643

Abstract

Interpretation of human genomes is a major challenge. We present the Scripps Genome ADVISER (SG-ADVISER) suite, which aims to fill the gap between data generation and genome interpretation by performing holistic, in-depth, annotations and functional predictions on all variant types and effects. The SG-ADVISER suite includes a de-identification tool, a variant annotation web-server, and a user interface for inheritance and annotation-based filtration. SG-ADVISER allows users with no bioinformatics expertise to manipulate large volumes of variant data with ease--without the need to download large reference databases, install software, or use a command line interface. SG-ADVISER is freely available at genomics.scripps.edu/ADVISER.

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