If you are in the Boston area, come out and bring a friend to the common for @standupforscience.bsky.social this Saturday! There's a great speaker lineup, music, tables... will be a jam!
I have an opening for a staff scientist or bioinformatician in my group at the Sanger Institute (closing date 24 March). Our current projects focus on disentangling rare and common variant contributions to rare neurodevelopmental conditions and to neurodevelopmental and perinatal traits. 1/2
Registrations and abstract submission for the 2026 𝗘𝘂𝗿𝗼𝗽𝗲𝗮𝗻 𝗜𝘀𝗹𝗲𝘁 𝗦𝘁𝘂𝗱𝘆 𝗚𝗿𝗼𝘂𝗽 #EISG2026 are NOW OPEN
Looking forward to seeing you in 𝗕𝗮𝗿𝗰𝗲𝗹𝗼𝗻𝗮!
tacticsmd.net/congreso/isl...
✅ The UK Government has today granted access to half a million UK Biobank participants' coded GP data for health research.
This change will dramatically increase the power of UK Biobank's dataset to advance the diagnosis, treatment and management of conditions handled by GPs.
🧬 New preprint alert! After years of collaborative work across 52 datasets we are presenting eQTLGen phase 2: a genome-wide eQTL meta-analysis covering 43,301 blood samples: www.medrxiv.org/content/10.6... (1/8)
How did the latest targeted lung cancer drug, and the first FDA-approved treatment born of Broad science, come about? Come find out at the next talk in the Broad Discovery Series!
74,000 patients enrolled in clinical trials were affected.
You don’t terminate funding for clinical trials midway & “order” patient care to continue.
That’s not how it works.
I can’t tell whether Jay Bhattacharya is lying or just showing off his sparkling incompetence.
🧪 archive.today/ooHj6
Nature and Science journalists denied entry to event featuring NIH Director
Perturbation Catalogue home page showing key metrics
The Perturbation Catalogue is live! 🧬🔎🖥️
It aims to bring genetic perturbation data into one curated, harmonised, and discoverable platform.
Take a look! www.ebi.ac.uk/perturbation...
Our multi-ancestry, multi-tissue MR study for type 2 diabetes is out in Nature Metabolism!
Amazing collab with the Type 2 Diabetes Global Genetics Initiative.
We showed that causal effects are mostly shared across ancestries but are highly heterogeneous across tissues.
www.nature.com/articles/s42...
How many high-impact developmental variants are we missing by relying only on adult splicing annotations?
We address this in our preprint “Aberrant splicing prediction during human organ development”: www.biorxiv.org/content/10.1...
Alex Pretti, wearing a green sweater with his VA badge on.
This is Alex Pretti.
This morning he was murdered by ICE. Six ICE agents held him down and shot him at point blank range. Alex was a nurse and researcher at the VA.
Our thoughts are with his loved ones and we stand united in action calling for the abolishment of ICE.
#ScientistsAgainstICE
I NEED EVERYONE YO UNDERSTAND THAT THE BUDGET IS NOT THE ISSUE. THIS MONEY IS ABOUT TO BE SPENT ON UNETHICAL PSEUDOSCIENCE.
New study shows a human genetics-to-medicines pipeline that worked in finding new drug candidates for Crohn’s disease. The molecules mimic the effects of a gene variant that protects against chronic inflammation.
Just astonishing good news. We are on the way to end Multiple Sclerosis.
University research delivers. Always has. Now a cabal in the White House is shattering it.
📢 Tomorrow, from 9 to 13 h we will honour the life and legacy of Dr. #JoanGuinovart, founder and first director of #IRBBarcelona, at the @www.pcb.ub.edu Auditorium.
🎥 In-person full | Livestream available here: https://www.youtube.com/live/QYZ69B5WDdo
head and shoulder photograph of Dr Nicola Whiffin with a broad smile and looking directly at camera.
Today we celebrate #ListerFellow @nickywhiffin.bsky.social 🤩She's on The Sunday Times Alternative Honours List 2025 for her role in discovering ReNU syndrome and the non-coding variants behind the disorder 👏
Read this fab story of discovery and rapid uptake👉 lister-institute.org.uk/renu-ed-hope...
Want to get the data out of a PDF figure? As in, the actual data – not a rough trace-along-the-lines version?
I made an app you might like: adamkucharski.github.io/pdf2plot/
It all started a few years ago... 🧵
PRIMED Year in Review: Join us as we look back on some of what @prsmethods.bsky.social consortium members accomplished in 2025 to help improve genetic risk prediction in global populations 1/
If you like larger sample sizes, then do check out our reprocessed and fine mapped cis-eQTLs and cis-sQTLs (leafCutter and MAJIQ!) from the INTERVAL cohort (whole blood, n up to 4,729)!
zenodo.org/records/1795...
These will be on the eQTL Catalogue FTP soon as well.
cc @yosephbarash.bsky.social
Why do some individuals defy their polygenic score?
In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference?
www.medrxiv.org/content/10.6...
Important piece thinking through what eugenics actually is and how this qualifies.
It's not lost on me that these companies are primarily men telling women how to responsibly reproduce. The marketing/examples are telling. It's part of a larger movement around control & should be treated seriously.
Type 2 #diabetes genetic burden shapes metabolic heterogeneity and accelerates progression in preclinical type 1 diabetes #T1D #T2D #genetics diabetesjournals.org/diabetes/art...? ada.silverchair-cdn.com/ada/content_...
Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes https://www.biorxiv.org/content/10.64898/2025.12.05.692665v1
Congratulations to the recipients of the 2025 BroadIgnite Awards: Pierre Ankomah, Fabio Cunial, Jordan Doman, Ana Gonzalez Ramos, Sarah Pierce, Avanthi Raghavan, and Jackson Weir! Learn how BroadIgnite helps early-career scientists drive biology forward: broad.io/BI2025.
🧬🫀🌏 NEW data release from the OurHealth study of Cardiovascular Disease in South Asians now available on @anvilproject.org!
anvilproject.org/news/2025/11...
1/
📢 New from the @prsmethods.bsky.social consortium, "Recommendations for responsible use of population descriptors in polygenic risk score development"! H/t to leads @johannalsmith.bsky.social and Quan Sun
www.nature.com/articles/s41...
in @natgenet.nature.com
Happy to share our Mass General Brigham Biobank descriptor paper in @natcomms.nature.com!
Huge thanks to all Biobank participants and to my incredible mentors & colleagues.
Phenome-wide RVAS/GWAS summary statistics are available at a2f.hugeamp.org
Paper: www.nature.com/articles/s41...
SuSiE 2.0: improved methods and implementations for genetic fine-mapping and phenotype prediction https://www.biorxiv.org/content/10.1101/2025.11.25.690514v1
