Helen Parkinson

InterPro 105.0 24th April 2025

Databases updates Pfam 37.3 PROSITE patterns 2025_01 PROSITE profiles 2025_01 HAMAP 2025_01

New entries 342 new entries with: 318 Pfam 40 NCBIfam 12 Prosite profiles 6 PANTHER 5 CDD

New features InterPro-N annotations BFVD structure predictions Simplified structure pages

📢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.

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.

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...

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