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