Josep M Mercader 🎗
@josep_mercader
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Studying Genetics of type 2 diabetes and related complex traits at the Broad Institute and MGH
Cambridge, MA
Joined November 2014
Very excited to seeing this published @CellReports TIGER: The gene expression regulatory variation landscape of human pancreatic islets
cell.com
Understanding human islet regulatory genetic variation is essential to better understand the pathophysiology of diabetes and related diseases. Here, Alonso, Piron, Moran et al. present a comprehens...
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I will stop using this app, which I’ve been embarrassingly using for too long. I will use only @josepmercader.bsky.social from now on
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It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS, indeterminate dendritic cell histiocytosis
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📽️🍿🧬 Check out @Yunfeng_Ruan's talk in our growing collection of videos on the @PRSdiversity website:
📣The recording of "Polygenic risk scores: method development and application" by @Yunfeng_Ruan is now available: https://t.co/fqMlhd87d2…. This talk is part of @broadinstitute 's MPG Primer series. For more info, check out https://t.co/h21I2Km019
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📣The recording of "Polygenic risk scores: method development and application" by @Yunfeng_Ruan is now available: https://t.co/fqMlhd87d2…. This talk is part of @broadinstitute 's MPG Primer series. For more info, check out https://t.co/h21I2Km019
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In my diversity supplement-funded graduate research, I used different types of mice to find DNA regions that alter susceptibility to air pollution. One of these regions is also found in humans and likely influences how people with lung diseases are affected by breathing pollution
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Beautiful paper and thread! Congratulations!
📣Excited to share our paper in @NatureGenet! https://t.co/ppAX1dqKZg Do plasma proteins mediate obesity’s effect on CAD risk? →Using two-step proteome-wide MR, domain-aware MR, epigenomics & scRNA-seq, we prioritized endotrophin as a mediator & potential therapeutic target A
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We’re hiring soon! 1–2 MSc positions, one PhD position (all fully funded), and a post-doc position will be available. Stay tuned and join us at McGill in the vibrant city of Montreal, Canada! Lab webpage: https://t.co/WfX5JOYTh9
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Excited to share the paper: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles are innocuous, just unstable – CAG repeats slowy expand throughout life. We call it a "ticking DNA clock".
cell.com
Single-cell measurement of the Huntington’s disease-causing CAG repeat reveals that somatic expansion of this repeat drives pathological changes in neurons, providing insights into disease progress...
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New preprint on proteomics data from GTEx. 10,841 proteins measured in 700 samples (from 5 tissues) using mass spec. Fang, Jiang et al. medRxiv https://t.co/HQuggPy6Yt
medrxiv.org
We report a systematic quantification of 10,841 unique proteins from over 700 GTEx samples, representing five human tissues. Sex, age and genetic factors are associated with variation in protein...
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1. landing 'base' for knowledge on the human pancreas 2. harmonized donor meta-data spanning several sources in 1 place. 3. integrated single-cell browser 4. knowledge graph for eQTL results 5. complete access at all levels of data/results
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🎆 Ring in the new year by reviewing the PRIMED Consortium's progress on improving genetic risk prediction in diverse genetic ancestry populations. See our Research Highlights https://t.co/76z2JK9lyw and video collection https://t.co/w1o2NhZ3uI
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It was great to be able to contribute the EP400 finding to this paper together with @Gianina_Natoli and @ChiaraFolland , flagging a novel CAG repeat locus in the EP400 gene as a likely (though extremely rare) cause of spinocerebellar ataxia when expanded beyond 55 repeats.
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity https://t.co/KVphyW20Ov
#biorxiv_genomic
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📊eQTL summ stats: https://t.co/M4fRwwbWHN 📜paper: https://t.co/0ZuqdNxnn4 📰early-version preprint: https://t.co/lby1uM4X58 🌐interactive browser of colocalized signals: https://t.co/GdiCIMI3Qm
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A major eQTL resource for cardiometabolic research🧬 👉eQTL meta-analysis of subcutaneous adipose tissue samples in N=2,344 👉eQTLs detected for 18,476 genes (34,774 signals)❗️ 👉3,595 colocalized signals with cardiometabolic traits 🔗links to data and paper👇
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Our mentor Casey Brown, apart from being an extraordinary scientist, was a brilliant teacher who loved everything genetics. In his honor, some of the world's leading experts came together to create the 'Casey Brown Lecture Series' on human genetics 1/
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Starting off the new year with a new paper! 🎆📰 Check out @mauer_jh 's fantastic manuscript evaluating features influencing the accuracy of local ancestry inference in admixed populations. Tweetorial posted previously for the preprint below, and PDF at:
I am delighted to announce that @mauer_jh’s first paper with me is up on biorxiv! Their work thoroughly evaluates features affecting local ancestry inference across many (I mean many) simulated demographic and data models to advise on best practices.
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Delighted to have collaborated with the @guy_rutter lab in this study linking long non coding RNA to epigenetic regulation in beta cells. 👌💯💪 https://t.co/4gtrUAgSaN
cell.com
Cell biology; Cellular physiology; Molecular biology
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