Scripps Genome ADVISER | Annotation and Distributed Variant Interpretation Server
Scripps Genome ADVISER | Annotation and Distributed Variant Interpretation Server

Background

Scripps Genome Annotation and Distributed Variant Interpretation Server (SG-ADVISER) is a web-server developed at The Scripps Research Translational Institute for the interpretation of genetic variant data. Downstream applications of variant annotation include:

  1. Clinical sequencing applications including: carrier testing, or identification of causal variants in molecular diagnosis, tumor sequencing, or diagnostic odyssey.
  2. Prioritization of variants prior to statistical analysis of sequence based disease association studies, especially for automated set-generation and enrichment of likely functional variants within sets.
  3. Identification of causal variants in post-GWAS/linkage sequencing studies.
  4. Identification of causal variants in forward genetic screens (stay tuned for non-human annotation).

SG-ADVISER provides known and predicted information about genetic variants - otherwise known as variant annotations - to place genetic variants in the appropriate context for downstream analysis.

Categories

These annotations fall broadly into four categories:

  1. Determination of the known or inferred genomic elements within which variants reside (e.g., exons, promoters, conserved elements, transcription factor binding sites, protein domains etc.).
  2. Prediction of the functional impact of variants on genomic elements (prediction of impact on protein function, changes in transcription factor binding strength, splicing efficiency, microRNA binding, etc.).
  3. Annotation of molecular and biological processes which link variants across genes and/or genomic elements with one another.
  4. 4. Annotation of known or predicted population-based, clinical, and/or molecular characteristics of the gene or variant (e.g. population frequency, pharmacogenetic variants, disease associations, eQTLs etc.).

See Methods for a detailed description of the annotations provided by SG-ADVISER.

Scripps Genome ADVISER | Annotation and Distributed Variant Interpretation Server