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Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver
- 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.
- Subjects :
- Computer science
lcsh:Medicine
Genomics
Human genomics
Genome
Genomic databases
User-Computer Interface
03 medical and health sciences
Annotation
Inheritance (object-oriented programming)
0302 clinical medicine
Databases, Genetic
microRNA
Humans
Genomic medicine
lcsh:Science
030304 developmental biology
Genetics
Internet
0303 health sciences
Multidisciplinary
Information retrieval
Genome, Human
lcsh:R
Computational Biology
Genome project
lcsh:Q
Human genome
Software
030217 neurology & neurosurgery
Research Article
Subjects
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