Topic: Variant interpretation

Interpreting human missense variants requires connecting genomic coordinates with protein sequences, structures and functional evidence. ProtVar integrates annotations and predictions from UniProt, Ensembl, PDBe, Open Targets and AlphaFoldDB, extending variant lookup to discovery across more than 500 million potential missense variants. This seminar demonstrates natural-language searches using diseases, pathways and drug responses, multi-criteria filtering, structural visualisation and data export. Participants will learn to prioritise variants, interpret their structural and functional effect

EMBL-EBI seeks a Bioinformatics Developer for DECIPHER, a platform supporting rare-disease research and clinical interpretation of genetic variation. The developer will evaluate and integrate genomic and phenotype resources, deploy analysis tools, design database structures and interfaces, investigate data problems and work with clinical and research collaborators. The role is based in Hinxton with hybrid working and may be full time or 80% time. The advert gives a closing date of 8 October 2026 at 23:59 CET.