Likhitha

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

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...

🚨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

Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders ARC-SV enables highly accurate detection and characterization of localized complex rearrangements of multiple DNA segments. Applying ARC-SV across human populations and brain cohorts uncovers connecti...

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 AbstractMotivation. Pacific Biosciences (PacBio) single molecule, long-read sequencing enables whole genome annotation and the characterization of 20 compl

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 And no, it's NOT `status`, `add`, and `commit`.

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...

The rise of agentic AI teammates in medicine Medicine is in the dawn of a fundamental shift from using artificial intelligence (AI) as tools to deploying AI as agents. When used as a tool, AI is passive and reactive. Even powerful medical AI fou...

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

NHS to launch world’s biggest trial of AI breast cancer diagnosis If successful, the scheme could speed up testing and reduce radiologists’ workload by around half

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...

Proliferation of middleware still seems worrying in terms of introducing new centralisation challenges. Curious to see how this plays out with decentralisation approaches

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 A major focus of human genetics is to map severe disease mutations. Increasingly that goal is understood as requiring huge numbers of people to be sequenced from every broadly-defined genetic ancestry...

“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!