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Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver

Authors :
William J. Shipman
Nicholas J. Schork
Phillip Pham
Galina Erikson
Ali Torkamani
Source :
PLoS ONE, Vol 10, Iss 2, p e0116815 (2015), PLoS ONE
Publication Year :
2015
Publisher :
Public Library of Science (PLoS), 2015.

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.

Details

ISSN :
19326203
Volume :
10
Database :
OpenAIRE
Journal :
PLOS ONE
Accession number :
edsair.doi.dedup.....9005b69ccdf010e7bc8dadbf8e330e3c
Full Text :
https://doi.org/10.1371/journal.pone.0116815