Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver

PLoS One. 2015 Feb 23;10(2):e0116815. doi: 10.1371/journal.pone.0116815. eCollection 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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Computational Biology / methods*
  • Databases, Genetic*
  • Genome, Human*
  • Genomics*
  • Humans
  • Internet
  • Software
  • User-Computer Interface