Tools and Software

VuTR

A web-application to support the interpretation of variants in 5’UTRs.

Website: https://vutr.rarediseasegenomics.org/

Publication: https://doi.org/10.1186/s13059-024-03248-0

UTRannotator

A plugin to the Ensembl Variant Effect Predictor that annotates variants in 5’UTRs have create or perturb upstream open reading frames (uORFs).

Github link: github.com/ImperialCardioGenetics/UTRannotator

Publication: https://doi.org/10.1093/bioinformatics/btaa783

Allele Frequency App

A web-application to calculate disease-specific allele frequency thresholds and explore disease architecture.

Website: cardiodb.org/allelefrequencyapp/

Publication: www.nature.com/articles/gim201726

CardioClassifier

A web-application to support the annotation and interpretation of variants in inherited cardiac conditions.

Website: www.cardioclassifier.org

Publication: www.nature.com/articles/gim2017258