Why perform rapid WGS for babies in the NICU? #GRD25
1. Increased NICU profitability
2. Reduced length of stay (and expense)
3. Gold standard for diagnosis of #RareDiseases
4. Gateway to precision therapeutics & interventions
5. Removes uncertainty & eliminates diagnostic odyssey

Next speaker of Therapeutics session is @NadavAhituv from USCF talking about "Functional characterization and therapeutic targeting of gene regulatory elements". Tons of genomic data but limited understanding of the regulatory code -> Massively parallel reporter assays (MPRAs). #GRD25

Such an honour to be at GRD 2025

Got the opportunity to present a poster highlighting the availability of recently released HGSVC Phase 3 data on the IGSR portal (www.internationalgenome.org/data-portal/...) and predicting variant effects using Ensembl VEP (www.ensembl.org/vep)

#GRD25 #RareDisease

Last session of #GRD25 kicking off with a talk by Nicky Whiffin from @UniofOxford on The Expanding Role of snRNAs in neurodevelopmental disorders. ReNU syndrome caused by variants in the non-coding RNA RNU4-2 is remarkably prevalent with estimated 100k individuals in the world

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...

A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺

🧵1/12

Novel research uses HPRC pangenome assemblies to uncover complex structural variations (cxSVs) as a central part of human genetic variation.

ARC-SV detects cxSVs linked to brain function, evolution, and psychiatric disorders.

Uncover the research behind it: www.cell.com/cell/abstrac...

nf-core/pacvar: a pipeline for analyzing longread PacBio whole genome and repeat expansion sequencing data. #WGS #RepeatExpansions @pacbio.bsky.social @nf-co.re #Bioinformatics 🧬 🖥️
academic.oup.com/bioinformati...

Chilling to see this list of terminated NIH grants. Research on Alzheimer's, HIV, rare diseases, vaccines -- gone. Cancer centers closed, training grants & fellowships terminated. Young scientists stranded. Patients waiting for treatments that'll never come. Just sad.

taggs.hhs.gov/Content/Data...

Unspoken #git secrets that save you mountains ⛰️ of time as an engineer read.highgrowthengineer.com/p/unspoken-g...

Today marks the beginning of OpenRxiv, which replaces bioRxiv and medRxiv, the world's largest preprint platform for life and medical science
openrxiv.org/introducing-...
@openrxiv.bsky.social

A beautiful example from @jodieingles27.bsky.social and team highlighting why we need more representative genomic resources to help clinical genetic interpretation!

#standards, #mechanisms, & #identifiers - oh my!

Just in time for #RareDisease Day, the @gene2phenotype.bsky.social website has a fresh look & new features to improve access to gene-disease models. 🧬💻

👉 Updated website: www.ebi.ac.uk/gene2phenoty...
👉 Why it matters: www.ebi.ac.uk/about/news/u...

Our new piece in The Lancet on the potential of AI agents in medicine
www.thelancet.com/journals/lan... @jameszou.bsky.social

Great that the UK is initiating a similar randomized trial in 700,000 women, but it seems the results from Sweden have already resolved many of the questions about the use A.I. w/ mammography and has long term follow-up for outcomes in >105,000 participants
theguardian.com/society/2025...

Inspiring article!
Shocking to see that it was previously censored until the changes were retracted.

“The distribution of highly deleterious variants across human ancestry groups”. Preprint with Anastasia Stolyarova and @gcbias.bsky.social: www.biorxiv.org/content/10.1...

Ensembl is 25! 🥳 Join us in celebrating our silver birthday by trying out our new browser - beta.ensembl.org 🎂

Silver carp 🩶🐟 and silvery gibbon 🩶🦧 genomes await!