That's right....and so dreadfully wrong
www.washingtonpost.com/science/2026...
Posts by Josep Mercader
some data on the shrinkage
Sara J Cromer, MD, MS
David Conti, PhD
The authors take the mic.
In this upcoming May 13 Journal Club Webinar, @ajhgnews.bsky.social’s paper authors Sara J Cromer, MD, MS, and David Conti, PhD, unpack what it takes to integrate PRS and SDoH across genetically and socially varied populations—LIVE: https://bit.ly/4chGKtr #ASHG
Pathetic.
gift link
wapo.st/4ccudpF
👀🧬🫀 ICYMI - updated data release from the OurHealth study of Cardiovascular Disease in South Asians now available on @anvilproject.org!
anvilproject.org/releases/202...
1/
Funding for BGE sequencing and analyses are provided through the NIH-funded @prsmethods.bsky.social consortium
For more information and how to apply for access, visit primedconsortium.org/research/our...
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Promotional graphic for “The Genetics Podcast” featuring a portrait of a man wearing round glasses and a striped sweater against an orange background with faint DNA letters. Large white text reads: “From polygenic scores to AI-driven medicine.” Smaller text below: “With Andrea Ganna of the Institute for Molecular Medicine Finland.” Episode number shown as “Ep 231.”
This week on The Genetics Podcast, @andganna.bsky.social joined host Patrick Short to discuss advances in genetics and data-driven medicine, including the the promise and limits of polygenic risk scores for disease prediction and clinical trials.
🎧 podcasts.apple.com/fi/podcast/e...
We are excited to share our gnomAD v4.1.1 release
gnomad.broadinstitute.org/news/2026-03...
Major changes:
* Constraint scores on X and Y
* Improved coverage correction
* LOFTEE fix
* Guidance on constraint cut-offs
* New quality flag for low coverage/mappability genes
@gnomad-project.bsky.social
A huge thank you to the tireless gnomAD production and browser teams, who made this possible. Special thanks to Katherine Chao, Julia Goodrich, Phil Darnowsky, Ruchit Panchal, Kristen Laricchia, and Mike Wilson.
More details + extra features can be found in the blog post.
Corporations as vectors of chronic disease, @nejm.org
Calling out 6 commercial products that contribute to 31% of all deaths globally.
Chemicals include pesticides, PFAS, manufactured.
And counterstrategies to address
www.nejm.org/doi/10.1056/...
"We health professionals must call urgent attention to this silent but deadly assault [EPA dismantling] on American's health...."
@nejm.org
www.nejm.org/doi/full/10....
Breast cancer mortality dropped 58% from 1975 to 2019.
Localized, early detected breast cancer has a 99% 5 year survival rate.
Modern mammogram tech was developed by NASA for telescopes.
Last year, RFK Jr. cancelled 87 research grants on breast cancer.
www.nytimes.com/2026/03/16/u...
RESEARCH |
@ozvanbocher.bsky.social E Zeggini (U Brest, Helmholtz Munich) et al.
The causal links of gene expression and protein abundance on type 2 diabetes risk in 4 ancestries 🧪
More MAHA
The Stanley Family Foundation has renewed its commitment to psychiatric research at Broad Institute, bringing its total investment to more than $1 billion. This funding has advanced schizophrenia/bipolar disorder research, opening new paths to therapies. broad.io/SC-News
RFK Jr is trying to get 14 peptides licensed without data on safety or efficacy. His favorite is BPC-157.
"Only three small human studies of BPC-157 exist, the largest of which is a telephone survey of 16 people who received an injection of the drug for knee pain"
www.economist.com/science-and-...
EXCLUSIVE: @standupforscience.bsky.social sent an investigator to Guinea-Bissau and shared their unpublished findings with members of Congress. I obtained a copy of that report, which details how deeply the researchers are enmeshed - and what that means for US:
www.theguardian.com/us-news/2026...
I get contacted multiple times a week by users; it's really exciting to hear about all the cool science🌟
If {ukbrapR} supports your research, please cite it so I can track its impact (this really helps me!)
Pro-tip: Use the {grateful} package to automatically include {ukbrapR} in your bibliography
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...