REEV#
REEV (REEV: Explanation and Evaluation of Variants) is a web-based tool for clinicians and researchers in rare disease genetics. See below for a list of features. A good place to start learning about REEV is the quickstart or tutorial.
Features#
It provides the following features as a central resource:
- gene-related information and functionality:
basic information, including gene summaries
gene pathogenicity information, such as pLI and LOEUF constraints, DECIPHER Haploinsufficiency, …
condition/disease-related information
aggregated variant information from ClinVar
gene-phenotype similarity information and ranking
- sequence variant-related functionality:
consequences on transcripts and proteins sequences
ClinVar variant information
gnomAD population frequency
UCSC 100 vertebrate conservation
semi-automated ACMG classification from InterVar[1]
link-out to external resources and tools
query the GA4GH beacon network for the variant
query the VariantValidator API for the variant
- structural variant (currently copy number loss/gain only)-related functionality:
consequences on overlapping genes
information on overlapping structural variants in ClinVar
semi-automated ACMG classification from AutoCNV[2]
link-out to external resources and tools
integrated genome browser with useful tracks for interpreting the variant
Open Source and Data#
REEV is open source software using open data. See section Operator Introduction for more information.