📢InterPro release 105.0 is live! ✨Update to Pfam 37.3, PROSITE patterns 2025_01 PROSITE profiles 2025_01 and HAMAP 2025_01 ✨342 new entries ✨Addition of InterPro-N annotations ✨Addition of BFVD structure predictions from @martinsteinegger.bsky.social's lab Have a look: ebi.ac.uk/interpro/htt... 💻🧪🆕

A timely tutorial for clinical interpretation at IMSB/ECCB using EMBL-EBI resources.

Ensembl@ensembl.org · 2y ago

Are you going to ISMB/ECCB 2025 @iscb.bsky.social in Liverpool 🇬🇧? Register for our tutorial on 'Genomic Variant Interpretation & prioritisation for clinical research'. More info: tinyurl.com/ahav9djn #genomics #bioinformatics

Congratulations to Damian Smedley and colleagues on their paper in Nature which analyses UK 100,000 genomes patients using gene burdent analysis and uses @impc-phenotypes.bsky.social data www.nature.com/articles/s41...

Rare disease gene association discovery in the 100,000 Genomes Project - Nature

A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.

nature.com

If you're interested in the PGS Catalog Calculator we're hosting a free training webinar @ebi.embl.org on December 4th: www.ebi.ac.uk/training/eve... (registration required). Come along, or catch up with the recording after! cc @iamslambert.bsky.social

The Polygenic Score Catalog@pgscatalog.bsky.social · 2y ago

The Catalog isn't just a knowledgebase and source of polygenic scores, we also provide open-soruce tools to make PGS calculation easier and more reproducible! You can find our pgsc_calc tool on github (github.com/PGScatalog/p...) with extensive documentation (pgsc-calc.readthedocs.io/en/latest/).