KnownVar is an annotation layer that allows users to check whether in literature. It leverages multiple variant databases (inc: ClinVar, OMIM, HGMD). This is anticipated to be most useful for Sequencing Clinic and similar studies of rare mutations.
Additional features include:
- Indicator function whether the gene has a disease-associated with it in OMIM
- Information of all disease names linked to gene in OMIM
- Report sites where a mutation has been linked to disease (but not the exact variant observed in patient of interest).
- Permitting screening of disease-associated mutations 2bp either side of variant of interest.
- Providing OMIM allelic variant (where available).
- Providing ClinVar "pathogenic/other" details (where available).
- Providing a HGMD assessment of pathogenicity of the variant (where available).
A complete update off all resources will occur bi-annually (June and December). ClinVar and OMIM will be updated on a more regular quarterly schedule (including March and September).
See how to run the function here:
List Known Var
This annotation layer will continue to grow with bioinformatics signatures. Contact Slavé for more information about upcoming bioinformatics signatures.