title: Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.
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.
authors.affiliation: Cypher Genomics, Inc., La Jolla, CA 92037, United States of America.
authors.forename: Phillip H
authors.initials: PH
authors.lastname: Pham
authors.affiliation: Scripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America.
authors.forename: William J
authors.initials: WJ
authors.lastname: Shipman
authors.affiliation: Scripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America.
authors.forename: Galina A
authors.initials: GA
authors.lastname: Erikson
authors.affiliation: Scripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America; The Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States of America; Cypher Genomics, Inc., La Jolla, CA 92037, United States of America.
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Schork
authors.affiliation: Scripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America; The Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA 92037, United States of America; Cypher Genomics, Inc., La Jolla, CA 92037, United States of America.
authors.forename: Ali
authors.initials: A
authors.lastname: Torkamani
mesh_terms: D019295:Computational Biology / Q000379:methods*; D030541:Databases, Genetic; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D020407:Internet; D012984:Software; D014584:User-Computer Interface