Reposted by Josep MercaderPRIMED Consortium @prsmethods.bsky.social · 14/10/2026Headed to #ASHG26 in Montreal next week? Mark your conference calendar with these abstracts from @prsmethods.bsky.social consortium members docs.google.com/spreadsheets... 1/2docs.google.comASHG 2026 PRIMED Abstracts 142 0
Reposted by Josep MercaderStand Up for Science! @standupforscience.net · 13/10/2026Here’s the situation. Demand congress stop this human rights abuse at: tr.ee/mTzxRe Learn more about this study at: buff.ly/03tICjM 26325 0
Reposted by Josep MercaderAndrás Forgács W @andraswf.bsky.social · 11/10/2026When your country can do medical experiments on other countries' babies, you have to ask the question, are you the baddies? 215060 0
Reposted by Josep MercaderSatoshi Yoshiji, MD, PhD @satoshiyoshiji.bsky.social · 23/09/2026Excited to be speaking at the “Voices of the Next Generation of Leaders in Genomic Medicine Research” symposium at #ASHG2026, hosted by Illumina 📅 Oct 20, 9 AM–12 PM Honored to join this fantastic group to discuss genetics, multi-omics, cardiometabolic disease, and more! t.co/Z0OPNh4885 053 0
Reposted by Josep MercaderAna Viñuela @anavinuela.bsky.social · 08/09/2026Please share! Fully funded PhD position (UK home fees) at U. of Dundee for someone interested in combining wet-lab (Dr Murdoch) and computational approaches (🙋♀️ 2nd supervisor), with plenty of scope for learning new skills across both areas. 🧪🧬 Deadline 21 Septemberfindaphd.comRedox Control of RNA Splicing in Cardiovascular Disease at University of Dundee on FindAPhD.comPhD Project - Redox Control of RNA Splicing in Cardiovascular Disease at University of Dundee, listed on FindAPhD.com 048 0
Reposted by Josep MercaderStand Up for Science! @standupforscience.net · 03/09/2026This Philly discovery paved the way for the impossible. Time to learn about one of the most important breakthroughs in modern medicine 🧪 🧵 #science #news #education #health #research 24923 0
Reposted by Josep MercaderColette Delawalla, PhD @cdelawalla.bsky.social · 27/08/2026Yeah so, if Fauci is going to be held in contempt of Congress for pleading the 5th, RFK Jr. had BETTER be held accountable for LYING TO CONGRESS. In any other administration, this would be grounds for impeachment. www.theguardian.com/us-news/2026...theguardian.comRFK Jr lied in Senate confirmation hearings, newly revealed documents indicateLetters obtained by Guardian and AP contradict testimony that 2019 visit to Samoa had ‘nothing to do with vaccines’ 11307103 0
Reposted by Josep MercaderEric Topol @erictopol.bsky.social · 19/08/2026mRNA vaccines vs cancer success —melanoma (Phase 3, RCT, definitive, announced today) —triple negative breast cancer —pancreatic cancer —non-small cell lung cancer —glioblastoma 8534161044 0
Reposted by Josep MercaderGen Wojcik @genandgenes.bsky.social · 17/08/2026ALL BABIES ARE GOOD BABIES. THERE ARE NO BEST BABIES YOU ABSOLUTE MORONS. 1222 0
Reposted by Josep MercaderEric Topol @erictopol.bsky.social · 16/08/2026Surprised by this endorsement by The Economist for these companies selecting embryos for up to $50K, "designer-ish babies," whose IQ, height & other features, can supposedly be accurately predicted by polygenic risk scores. They can't. economist.com/leaders/2026... www.economist.com/business/202... 713832 0
Reposted by Josep MercaderFonsi Loaiza @fonsiloaizap.bsky.social · 02/08/2026Se llamaba Faten Ben Omar El Azizi, era jugadora en el Mogreb Atl.Tetuán y una de las promesas del fútbol marroquí. Es una de las fallecidas ahogadas nadando la costa de Ceuta. Se contabilizan ya 72 víctimas mortales, mientras se difunden todo tipo de discursos de odio xenófobos. 18391269 0
Reposted by Josep MercaderElizabeth Atkinson @egatkinson.bsky.social · 20/07/2026The big picture: admixed and related samples are common in biobanks and cohorts around the world, but researchers have lacked a dedicated tool to analyze both features together. Tractor-Mix opens the door to more powerful GWAS without excluding relatives or losing ancestry-specific insight. 011 0
Reposted by Josep MercaderPRIMED Consortium @prsmethods.bsky.social · 17/07/2026Watch @prsmethods.bsky.social investigators Dave Conti and Sara Cromer present on "Incorporating Polygenic Risk Scores and Social Determinants of Health Across Populations" from the May @ajhgnews.bsky.social journal club, now added to our PRIMED video collection: primedconsortium.org/education#en... 053 0
Reposted by Josep MercaderLinda Kachuri @lindakachuri.bsky.social · 16/07/2026📢 #TOPMed e/sQTL atlas is out in @science.org today! Happy to contribute to this amazing team effort and rich resource for the genomics community: 69k cis-eQTL + 35k cis-sQTL across 6 tissues/cell types and diverse ancestries. Still more to discover 😉🧬 www.science.org/doi/10.1126/...science.orgCross-cohort analysis of expression and splicing quantitative trait loci in TOPMedMost genetic variants associated with complex traits are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterized 14,324 RNA-sequen... 23515 0
Reposted by Josep MercaderAlicia Martin @genetisaur.bsky.social · 08/07/2026So excited to see this published! This method was a long time in the making and is now being widely used to balance scale with depth, especially for participants where unbiased sequencing approaches are so much more useful than arrays 21710 0
Reposted by Josep MercaderBroad Institute @broadinstitute.org · 08/07/2026Broad scientists developed the Blended Genome Exome (BGE) sequencing method, which delivers high-quality, unbiased data at a lower cost than existing gold-standard methods and makes large-scale genetic studies more feasible. @genetisaur.bsky.socialbroad.ioLow-cost genome sequencing approach is powering genetics research on mental illness and many other studiesThe Blended Genome Exome approach delivers high-quality, unbiased genetic data at a quarter of the cost of the leading sequencing method. 041 0
Reposted by Josep MercaderTim Frayling @timfrayling.bsky.social · 30/06/2026Are you one of the >150,000 people in Geneva who have signed a general consent to allow researchers to securely reuse your data for medical research ? See below to find out how your data and samples could be helping us understand disease www.linkedin.com/feed/update/...linkedin.com#biohug #personalisedmedicine #translationalresearch | Faculty of Medicine - UNIGEBioHUG Biobank: 10,000 DNA samples and counting! Launched in February 2025, BioHUG (UNIGE Faculty of Medicine & HUG) aims to collect 20,000 DNA samples by 2027 — a milestone that will place it among ... 022 0
Reposted by Josep MercaderJack Kosmicki @jakphd.bsky.social · 25/06/2026After 4 years, it's rather nice to finally present our work on genetic's model trait, height, in >1.4M WES/WGS samples (826k discovery; led by Adam Locke & Goncalo Abecasis where we found (amongst many other things) 207 genes (P<1.75e-9). A thread of findings below⬇️ www.medrxiv.org/content/10.6... 1187 0
Reposted by Josep MercaderIRB Barcelona @irbbarcelona.org · 19/06/2026La Dra. Núria López-Bigas (@nlbigas.bsky.social), investigadora a l'#IRBBarcelona, a la llista de @forbes.com Espanya com una de "Les 50 dones més influents de Catalunya 2026". Lidera el @bbglab.bsky.social, centrat en l'estudi de mutacions del càncer. Enhorabona! ➡️ shorturl.at/H9cgs 061 0
Josep Mercader @josepmercader.bsky.social · 17/06/2026Thank you to all the collaborators, analysts and multiple cohorts and other senior authors Xueling Sim, Jennifer Below, Alisa Manning, Marie Loh, Tian Ge and Maggie Ng, who contributed to this study. We are grateful to NIH for supporting the PRIMED Consortium (D-PRISM) which made this work possible. 010 0
Josep Mercader @josepmercader.bsky.social · 17/06/2026(2) Current PRSs still require classification of individuals into a discrete ancestry group, disregarding heteregeneity whithin each ancestry group. (3) Current PRS do not include rare variants, which can have a large effect on T2D risk. See preprint starting to address this tinyurl.com/85jzv2a5medrxiv.orgImproving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variantsPolygenic risk scores (PRSs) can improve type 2 diabetes (T2D) risk prediction beyond clinical risk factors, but most exclude low-frequency, rare, and population-specific variants. We hypothesized tha... 110 0
Josep Mercader @josepmercader.bsky.social · 17/06/2026We hope that these robust and validated scores will be helpful to start testing the utility of such scores in the clinic and in which clinical scenarios they may be most useful. So, what's next?. Still many areas of improvement! (1) PRSs can still be improved in multiple understudied populations. 100 0
Josep Mercader @josepmercader.bsky.social · 17/06/2026Also, we also find that people at the top 2.5% of the PRS distribution have up to seven-times increased risk of developing T2D. Please, take a look at the github page prepared by Alicia Huerta-Chagoya if you are interested in implementing your scores in your population github.com/ahuertach/D-...lnkd.inLinkedInThis link will take you to a page that’s not on LinkedIn 100 0
Josep Mercader @josepmercader.bsky.social · 17/06/2026For example, we see that people with "normoglycemia" but high PRSs have similar T2D risk as those with "prediabetes" and low-PRS. See below Kaplan-Meyer plots for T2D incidence in normoglycemica (left) vs prediabetes (right) stratified by PRS tertiles (example in Admixed Americans). 100 0
Josep Mercader @josepmercader.bsky.social · 17/06/2026These scores, developed using genetic data from nearly 2 million people and, importantly, tested them thoroughly, so that we know how accurate they are in each population. We observe that PRS improve prediction over standard clinical risk factors. 100 0
Josep Mercader @josepmercader.bsky.social · 17/06/2026Polygenic risk scores (PRSs) for type 2 diabetes have been around for a while, but there were several limitations. First, they do not perform well in populations that differ from European ancestry and second, their accuracy has not been comprehensively tested in multiple populations. 100 0
Josep Mercader @josepmercader.bsky.social · 17/06/2026I am very excited to see this paper out, which has been an Herculean effort, led by @aliciahuerta.bsky.social and Joohyum Kim and co-supervised by Maggie Ng and myself, now published in the The Lancet Group (Lancet Diabetes & Endocrinology) www.thelancet.com/journals/lan...lnkd.inLinkedInThis link will take you to a page that’s not on LinkedIn 110 0
Reposted by Josep MercaderPlant Science Spotlight @plant-sci.bsky.social · 13/06/2026Don’t reach for ChatGPT Images or Nano Banana as your first option when creating scientific images There are multiple free and open-source images, icons, and tools for creating scientific illustrations. #plantscience @stephenturner.us blog.stephenturner.us/p/free-open-...blog.stephenturner.usFree and open-source images, icons, and tools for creating scientific illustrationsPhylopic, NIH Bioart, Bioicons, Scidraw, Open Science Art, Health Icons, Servier Medical Art, Biodiversity Heritage Library, the Noun Project, Segment Anything, Excalidraw, draw.io, Biographics 315673 0
Reposted by Josep MercaderSteven Kahn @sekahn.bsky.social · 08/06/2026This just out in Diabetes Care. The need to highlight the destructive plans of the administration continues. Everyone needs to post comments to the OMB website. Relevant links in the article. Don’t delay!! diabetesjournals.org/care/article...diabetesjournals.orgPlease Tell Me It Is Only a Nightmare—The Proposed Dismantling of the United States Federal Research InfrastructureSteven E. Kahn, Cheryl A.M. Anderson, John B. Buse, Elizabeth Selvin, Vanita R. Aroda, Seth A. Berkowitz, Matthew J. Crowley, Stephanie L. Fitzpatrick, Meg 03928 0
Reposted by Josep MercaderSteven Kahn @sekahn.bsky.social · 06/06/2026I grew up in apartheid S Africa, where muzzling of speech and encroachment on academic freedom were the norm. I came to the USA to pursue a career in science. I never thought that at this stage of my career, I would ever experience my youth again. #StandUpForScience #ADA #ADA2026 711838 0
Reposted by Josep MercaderColeen Murphy @ctmurphy1.bsky.social · 05/06/2026diabetesjournals.org/care/article...diabetesjournals.orgMisguided Brushes of a Pen Continue to Dismantle and Destroy Biomedical Research in the United States: We Can No Longer Afford Complacency and Fear. We Must All Act Now!The opinions expressed in this editorial are the personal views of the authors (S.E. Kahn, C.A.M. Anderson, J.B. Buse, and E. Selvin) and do not represent 166 0
Reposted by Josep MercaderStand Up for Science! @standupforscience.net · 05/06/2026We commend Steven Kahn, MBChB, Aaron Kelly, PhD, Desmond Schatz, MD, Justin Ryder, PhD, and Irl Hirsch, MD for Standing Up for Science at the ADA meeting. They were forcibly removed by police for handing out the following editorial. diabetesjournals.org/care/article...diabetesjournals.orgMisguided Brushes of a Pen Continue to Dismantle and Destroy Biomedical Research in the United States: We Can No Longer Afford Complacency and Fear. We Must All Act Now!The opinions expressed in this editorial are the personal views of the authors (S.E. Kahn, C.A.M. Anderson, J.B. Buse, and E. Selvin) and do not represent 317679 0
Reposted by Josep MercaderStand Up for Science! @standupforscience.net · 05/06/2026Reported by @medpagetoday.com Here: www.medpagetoday.com/special-repo...medpagetoday.comVideo: Police Tussle With Diabetes Experts at ADA MeetingResearchers told they could no longer attend the annual scientific sessions 45020 0
Reposted by Josep MercaderJim Johnson 🇨🇦 @jimjohnsonsci.bsky.social · 05/06/2026Extremely dark days for science, for freedom of speech, and for America. If the US ADA is not safe for its flagship journal editor in chief, then imagine how un-safe it is for others. One of many reasons I’m not at the #ada2026 . Missing my friends/colleagues but not the pervasive fascism. 23012 0
Reposted by Josep MercaderSam Lambert @iamslambert.bsky.social · 20/05/2026@omicspred.bsky.social centralises imputation models from multiple resources (PredictDB, Zenodo, INTERVAL/UKB-trained scores) and multiple omics layers (transcriptomics, metabolomics, proteomics) to make analyses easier and more comprehensive, e.x. this multi-ancestry multi-omics MVP PheWAS! 134 0
Reposted by Josep MercaderRan Blekhman @blekhman.bsky.social · 17/05/2026Some thoughts on where AI in genomics stands right now, building on a symposium we recently hosted at UChicago. Seven points, ranging from why scaling DNA models hasn't delivered, to why metadata is the real bottleneck, to the weird backlash against AI in academia open.substack.com/pub/blekhman...open.substack.comSeven points on the current state of AI in genomicsA grounded take from the messy middle of an AI revolution 46825 0
Reposted by Josep MercaderLorena Fernández Álvarez @loretahur.bsky.social · 17/05/2026#TalDíaComoHoy en 1988, a Patricia Bath se le otorga la patente por su tecnología que usa láser para eliminar cataratas, convirtiéndose en la primera mujer afroamericana en recibir una patente para un dispositivo médico. #WomenInSTEM 3390137 0
Reposted by Josep MercaderEric Topol @erictopol.bsky.social · 20/04/2026That's right....and so dreadfully wrong www.washingtonpost.com/science/2026... 819564 0
Reposted by Josep MercaderEric Topol @erictopol.bsky.social · 20/04/2026some data on the shrinkage 39830 0
Reposted by Josep MercaderAmerican Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 17/04/2026The 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: bit.ly/4chGKtr #ASHG 064 0
Reposted by Josep MercaderEric Topol @erictopol.bsky.social · 09/04/2026Pathetic. gift link wapo.st/4ccudpF 12548186 0
Reposted by Josep MercaderPRIMED Consortium @prsmethods.bsky.social · 08/04/2026👀🧬🫀 ICYMI - updated data release from the OurHealth study of Cardiovascular Disease in South Asians now available on @anvilproject.org! anvilproject.org/releases/202... 1/anvilproject.orgMarch 2026 Release - AnVIL Portal 111 0
Reposted by Josep MercaderPRIMED Consortium @prsmethods.bsky.social · 08/04/2026Funding 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... 3/primedconsortium.orgOurHealth study | PRIMED Consortium 001 0
Reposted by Josep MercaderInstitute for Molecular Medicine Finland (FIMM) @fimm-uh.bsky.social · 20/03/2026This 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... 052 0
Reposted by Josep MercaderKaitlin Samocha @ksamocha.bsky.social · 30/03/2026We 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.socialgnomad.broadinstitute.orggnomAD v4.1.1 | gnomAD browserThe 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... 1112 0
Reposted by Josep MercaderKaitlin Samocha @ksamocha.bsky.social · 30/03/2026A 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. 111 0
Reposted by Josep MercaderEric Topol @erictopol.bsky.social · 25/03/2026Corporations 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/... 5237104 0
Reposted by Josep MercaderEric Topol @erictopol.bsky.social · 25/03/2026"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....nejm.orgThe Dismantling of Environmental Protections — A Grave Threat to America’s Health | NEJMThe 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. 215165 0
