Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.
Where this comes from
- Record sourced from PubMed, PMID 25706643.
- Also identified by DOI 10.1371/journal.pone.0116815 and PMC identifier 4338027.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Computational Biology
- Databases, Genetic
- Genome, Human
- Genomics