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Posts by Josep Mercader

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That's right....and so dreadfully wrong
www.washingtonpost.com/science/2026...

3 days ago 194 64 8 6
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some data on the shrinkage

3 days ago 97 29 3 6
Sara J Cromer, MD, MS

Sara J Cromer, MD, MS

David Conti, PhD

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

5 days ago 5 4 0 0
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Pathetic.
gift link
wapo.st/4ccudpF

2 weeks ago 554 188 12 6
March 2026 Release - AnVIL Portal

👀🧬🫀 ICYMI - updated data release from the OurHealth study of Cardiovascular Disease in South Asians now available on @anvilproject.org!

anvilproject.org/releases/202...

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2 weeks ago 1 1 1 0
OurHealth study | PRIMED Consortium

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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2 weeks ago 0 1 0 0
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.”

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...

1 month ago 5 2 0 1
gnomAD v4.1.1 | gnomAD browser The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from...

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

3 weeks ago 10 2 1 1

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.

3 weeks ago 1 1 1 0
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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/...

4 weeks ago 236 106 5 3
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The Dismantling of Environmental Protections — A Grave Threat to America’s Health | NEJM The Trump administration’s wide-ranging actions to dismantle U.S. environmental regulations will cause long-lasting health harms, disproportionately affecting low-income and other vulnerable groups.

"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....

4 weeks ago 151 65 2 4
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Susie Wiles, Trump’s White House Chief of Staff, Has Breast Cancer

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...

1 month ago 5677 2571 239 118
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Unravelling the molecular mechanisms causal to type 2 diabetes across global populations and disease-relevant tissues - Nature Metabolism Analysing the causal links of gene expression and protein abundance on type 2 diabetes risk in blood and seven tissues related to the disease from individuals of four ancestries, the authors advance our understanding of the genetic architecture of type 2 diabetes

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 🧪

1 month ago 7 4 0 0
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More MAHA

1 month ago 138 56 7 2
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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

1 month ago 10 1 0 0
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Want to hack your body with peptides? If only the science agreed Performance-enhancing peptides are increasingly popular among fitness enthusiasts and biohackers, despite limited human testing and potential health risks.

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-...

1 month ago 179 69 7 8
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Experts fear ‘unethical’ vaccine trial in Africa is ‘prototype’ for US studies under RFK Jr Danish researchers whose work on effects of vaccines has been called into question are at center of US vaccine policy

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...

1 month ago 117 61 2 6
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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

1 month ago 2 3 0 1
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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!

1 month ago 29 10 0 0
Bioinformatician/Staff Scientist in Medical Genomics Do you want to help us improve human health and understand life on Earth? Make your mark by shaping the future to enable or deliver life-changing science to solve some of humanity’s greatest challenge...

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

1 month ago 14 13 1 0
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Islet Study Group Conference 2026 The Islet Study Group (ISG) Conference is a leading international forum dedicated to advancing islet biology and diabetes research.

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...

2 months ago 3 1 0 0
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✅ 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.

2 months ago 29 16 1 8
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🧬 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)

2 months ago 37 21 1 4

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!

2 months ago 1 2 0 0

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

2 months ago 625 279 20 9

Nature and Science journalists denied entry to event featuring NIH Director

2 months ago 348 154 5 2
Perturbation Catalogue home page showing key metrics

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...

2 months ago 11 5 1 0
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Unravelling the molecular mechanisms causal to type 2 diabetes across global populations and disease-relevant tissues Nature Metabolism - Analysing the causal links of gene expression and protein abundance on type 2 diabetes risk in blood and seven tissues related to the disease from individuals of four...

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...

2 months ago 9 5 0 2

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...

2 months ago 8 6 1 0