Josep Mercader
@josepmercader.bsky.social
Pinned
Josep Mercader
@josepmercader.bsky.social
· Nov 15
Computational Associate II- Translational Diabetes Genomics In Diverse Populations
Apply your computational and mathematical skills to solving the hardest problems in big-data genomics and have a wide impact on science and clinical practice, including diabetes and related...
broadinstitute.avature.net
We have a new open position to analyze large-scale genomic datasets and EHR data to better understand and improve care for type 2 diabetes and monogenic diabetes, in collaboration with Chirag Patel, Miriam Udler, Aaron Leong, and many others. Please share! broadinstitute.avature.net/en_US/career...
Reposted by Josep Mercader
✅ 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.
This change will dramatically increase the power of UK Biobank's dataset to advance the diagnosis, treatment and management of conditions handled by GPs.
February 10, 2026 at 2:57 PM
✅ 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.
This change will dramatically increase the power of UK Biobank's dataset to advance the diagnosis, treatment and management of conditions handled by GPs.
Reposted by Josep Mercader
🧬 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)
February 6, 2026 at 10:14 AM
🧬 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)
Reposted by Josep Mercader
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!
Join us on Tuesday, February 24 at 6PM ET in Cambridge, MA (or online) for a Broad Discovery Series talk with Heidi Greulich and Matthew Meyerson, “The story behind a new therapy for lung cancer patients.” Register: broadinstitute.swoogo.com/Discovery26
February 3, 2026 at 7:21 PM
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!
Reposted by Josep Mercader
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
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
February 3, 2026 at 7:02 PM
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
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
Reposted by Josep Mercader
Nature and Science journalists denied entry to event featuring NIH Director
I'm at the Willard Hotel where I've been denied entry and kicked out of the Reclaiming Science event with NIH director Bhattacharya & other top agency leaders.
@jocelynkaiser.bsky.social and I registered for the event months ago yet were told capacity was full, even as they let in dozens of others.
@jocelynkaiser.bsky.social and I registered for the event months ago yet were told capacity was full, even as they let in dozens of others.
January 31, 2026 at 2:50 AM
Nature and Science journalists denied entry to event featuring NIH Director
Reposted by Josep Mercader
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...
It aims to bring genetic perturbation data into one curated, harmonised, and discoverable platform.
Take a look! www.ebi.ac.uk/perturbation...
January 27, 2026 at 3:30 PM
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...
It aims to bring genetic perturbation data into one curated, harmonised, and discoverable platform.
Take a look! www.ebi.ac.uk/perturbation...
Reposted by Josep Mercader
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...
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...
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...
rdcu.be
January 27, 2026 at 10:36 PM
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...
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...
Reposted by Josep Mercader
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...
We address this in our preprint “Aberrant splicing prediction during human organ development”: www.biorxiv.org/content/10.1...
www.biorxiv.org
January 26, 2026 at 3:43 PM
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...
We address this in our preprint “Aberrant splicing prediction during human organ development”: www.biorxiv.org/content/10.1...
Reposted by Josep Mercader
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
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
January 24, 2026 at 8:03 PM
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
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
Reposted by Josep Mercader
I NEED EVERYONE YO UNDERSTAND THAT THE BUDGET IS NOT THE ISSUE. THIS MONEY IS ABOUT TO BE SPENT ON UNETHICAL PSEUDOSCIENCE.
RFK Jr. appointee Kirk Milhoan has just clearly stated, out loud, that he wants to experiment on the people of the United States by seeing what happens as vaccination coverage plummets and infectious diseases spread.
January 22, 2026 at 8:32 PM
I NEED EVERYONE YO UNDERSTAND THAT THE BUDGET IS NOT THE ISSUE. THIS MONEY IS ABOUT TO BE SPENT ON UNETHICAL PSEUDOSCIENCE.
Reposted by Josep Mercader
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.
Scientists develop molecules that may treat Crohn’s disease
The molecules mimic a gene variant that protects against Crohn’s, demonstrating a roadmap for using genetics to develop therapies for inflammatory bowel disease and other chronic inflammatory disorder...
broad.io
January 16, 2026 at 4:54 PM
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.
Reposted by Josep Mercader
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.
University research delivers. Always has. Now a cabal in the White House is shattering it.
Epstein-Barr Virus #EBV was linked to #MultipleSclerosis - now a plausible cause has been found, misidentification by longterm memory T-cells that pick on the wrong protein, ANO2, instead of the EBV-antigen. Massive inflection towards the elimination of MS!!!
🧪🧠Cell www.cell.com/cell/fulltex...
🧪🧠Cell www.cell.com/cell/fulltex...
Anoctamin-2-specific T cells link Epstein-Barr virus to multiple sclerosis
Researchers identified anoctamin-2 (ANO2) as a frequent autoimmune target in multiple
sclerosis, with T cell responses against ANO2 occurring in over half of patients.
These ANO2-specific T cells shar...
www.cell.com
January 15, 2026 at 2:33 AM
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.
University research delivers. Always has. Now a cabal in the White House is shattering it.
Reposted by Josep Mercader
📢 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
🎥 In-person full | Livestream available here: https://www.youtube.com/live/QYZ69B5WDdo
January 15, 2026 at 10:02 AM
📢 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
🎥 In-person full | Livestream available here: https://www.youtube.com/live/QYZ69B5WDdo
Reposted by Josep Mercader
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...
Read this fab story of discovery and rapid uptake👉 lister-institute.org.uk/renu-ed-hope...
January 14, 2026 at 10:32 AM
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...
Read this fab story of discovery and rapid uptake👉 lister-institute.org.uk/renu-ed-hope...
Reposted by Josep Mercader
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... 🧵
I made an app you might like: adamkucharski.github.io/pdf2plot/
It all started a few years ago... 🧵
January 13, 2026 at 9:12 PM
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... 🧵
I made an app you might like: adamkucharski.github.io/pdf2plot/
It all started a few years ago... 🧵
Reposted by Josep Mercader
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/
January 9, 2026 at 1:06 AM
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/
Reposted by Josep Mercader
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
zenodo.org/records/1795...
These will be on the eQTL Catalogue FTP soon as well.
cc @yosephbarash.bsky.social
Fine mapped eQTL and sQTL summary statistics from the INTERVAL RNA-seq study (part 1)
This repository contains fine mapped eQTL and sQTL summary statistics from the INTERVAL RNA-seq study (Tokolyi et al, 2025). Datasets QTD001000-QTD001002 are based on the whole cohort of 4,729 samples...
zenodo.org
January 7, 2026 at 10:24 AM
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
zenodo.org/records/1795...
These will be on the eQTL Catalogue FTP soon as well.
cc @yosephbarash.bsky.social
Reposted by Josep Mercader
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...
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...
January 6, 2026 at 6:31 PM
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...
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...
Reposted by Josep Mercader
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.
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.
I wrote about the bizarre case of Herasight, the embryo selection company going all in on eugenics.
Embryo selection company Herasight goes all in on eugenics
...
open.substack.com
December 14, 2025 at 4:37 PM
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.
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.
Reposted by Josep Mercader
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_...
December 10, 2025 at 9:48 PM
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_...
Reposted by Josep Mercader
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
December 9, 2025 at 6:34 PM
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
Reposted by Josep Mercader
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.
December 4, 2025 at 7:59 PM
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.
Reposted by Josep Mercader
🧬🫀🌏 NEW data release from the OurHealth study of Cardiovascular Disease in South Asians now available on @anvilproject.org!
anvilproject.org/news/2025/11...
1/
anvilproject.org/news/2025/11...
1/
Release of The OurHealth Study on the AnVIL Platform - AnVIL Portal
anvilproject.org
December 3, 2025 at 8:41 PM
🧬🫀🌏 NEW data release from the OurHealth study of Cardiovascular Disease in South Asians now available on @anvilproject.org!
anvilproject.org/news/2025/11...
1/
anvilproject.org/news/2025/11...
1/
Reposted by Josep Mercader
📢 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
www.nature.com/articles/s41...
in @natgenet.nature.com
Recommendations for responsible use of population descriptors in polygenic risk score development - Nature Genetics
In this Perspective, authors from the Polygenic Risk Methods Development (PRIMED) Consortium highlight the ethical and analytical impact of population descriptors in polygenic risk score development a...
www.nature.com
December 2, 2025 at 2:39 AM
📢 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
www.nature.com/articles/s41...
in @natgenet.nature.com
