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Helen Parkinson

@helenparkinson.bsky.social

171 followers 32 following 2 posts

Bioinformatician, herder of cats, lover of pacific screech owls.

Posts Replies Media

Reposted by Helen Parkinson

InterPro @interprodb.bsky.social · 24/04/2025

📢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... 💻🧪🆕

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

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Helen Parkinson @helenparkinson.bsky.social · 25/03/2025

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

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Helen Parkinson @helenparkinson.bsky.social · 26/02/2025

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...

nature.com

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.

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Reposted by Helen Parkinson

The Polygenic Score Catalog @pgscatalog.bsky.social · 27/11/2024

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

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