Tools and Software

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

Preprint: www.biorxiv.org/content/10.1101/2020.06.03.132266v1

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