Our UTRannotator tool paper is now online at Bioinformatics: It annotates ~1/3rd of ClinVar (Likely) Path 5'UTR variants as potentially uORF-perturbing. Thread from @xiaolei_gene on preprint👇(we have since added annotations for uSTOP-creating variants). Tweet added by Nicky Whiffin @nickywhiffin

Nicky Whiffin

4 years

Our UTRannotator tool paper is now online at Bioinformatics: It annotates ~1/3rd of ClinVar (Likely) Path 5'UTR variants as potentially uORF-perturbing. Thread from @xiaolei_gene on preprint👇(we have since added annotations for uSTOP-creating variants).

Annotating high-impact 5′untranslated region variants with the UTRannotator

AbstractSummary. Current tools to annotate the predicted effect of genetic variants are heavily biased towards protein-coding sequence. Variants outside of

academic.oup.com

Xiaolei Zhang 张小蕾

@xiaolei_gene

4 years

Want to identify regulatory variants disrupting protein translation with a large effect? With Matt Wakeling @drjamesware @nickywhiffin , delighted to present UTRannotator - a VEP @ensembl plugin to identify high-impact 5'UTR variant perturbing upstream ORFs