Helen Parkinson
@helenparkinson.bsky.social
Bioinformatician, herder of cats, lover of pacific screech owls.
Reposted by Helen Parkinson
📢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...
💻🧪🆕
✨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...
💻🧪🆕
April 24, 2025 at 4:07 PM
📢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...
💻🧪🆕
✨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.
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
#genomics #bioinformatics
March 25, 2025 at 2:43 PM
A timely tutorial for clinical interpretation at IMSB/ECCB using EMBL-EBI resources.
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.
www.nature.com
February 26, 2025 at 5:57 PM
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...
Reposted by Helen Parkinson
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
cc @iamslambert.bsky.social
November 27, 2024 at 3:55 PM
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
cc @iamslambert.bsky.social