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Open Targets

@opentargets.org
719 followers 38 following 293 posts

Public-private partnership using human genetics and genomics data for systematic drug target identification and prioritisation. blog.opentargets.org

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Saez-Rodriguez Group @saezlab.bsky.social · 07/09/2026
🧵 Introducing Karenina, an open-source framework to evaluate LLMs & agents: doi.org/10.64898/202...
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Open Targets @opentargets.org · 28/09/2026
The Open Targets Platform autumn (26.09) release is out now! 🍂 It's packed with genetics updates, with: 🧬 1.24 million new molecular QTL credible sets 🧬 2 new sources of gene burden data 🧬 Updates from the GWAS Catalog 🧬 Genetic constraint data for X- and Y-linked genes through gnomAD and more!
26.09 release graphic highlights some of the major updates, including 1.24 million more molecular QTL credible sets, from GTEx v10, MAGE, and IBDverse, through the eQTL Catalogue. Genes & Health and BRaVa as new sources of gene burden. 14,690 new studies from the GWAS Catalog. Genetic constraing for X- and Y- linked genes through gnomAD v4.1.1. A Platform metrics page.
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Open Targets @opentargets.org · 12/08/2026
Ambitious science can start in the most unglamorous places. In 2015, gastroenterologist Tim Raine and geneticist Carl Anderson had a casual conversation in an underground carpark, which led to the largest single-cell dataset of Inflammatory Bowel Disease (IBD)-relevant tissues
Two men smile at the camera while posing in front of the entrance to an underground car park on a sunny day.
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Open Targets @opentargets.org · 04/08/2026
6 years 646 patients 1193 samples 100 endoscopists 9 lab scientists 3 postdocs 2 PhD students 502 courier runs from Addenbrooke’s Hospital to @sangerinstitute.bsky.social IBDverse is the largest single-cell dataset of Inflammatory Bowel Disease (IBD)—and generating the data for it was no mean feat
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Open Targets @opentargets.org · 28/07/2026
"Patients know what it’s like to live with these conditions on a daily basis and the impact it has on our lives. By getting involved, we can help clinicians and researchers understand what really matters to us, so future research and treatments genuinely meet our needs." fg.bmj.com/content/earl...
fg.bmj.com
Patient and public involvement and engagement in research: who, why, when and how to get it right
Patient and public involvement and engagement (PPIE) refers to the different ways those with lived experience, including patients, family, friends and carers, and the public engage with the design, de...
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Open Targets @opentargets.org · 21/07/2026
“We hope our framework will help drive a conceptual shift in how MASLD is studied and understood.” A new study reframes Metabolic dysfunction-Associated Steatotic Liver Disease as a continuous process, better capturing the underlying disease biology www.nature.com/articles/s42...
nature.com
A data-driven framework reconstructs the molecular continuum of human MASLD progression - Nature Metabolism
A trajectory-based molecular framework reveals coordinated temporal shifts in metabolic, inflammatory and fibrogenic mechanisms across the human MASLD spectrum.
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Evangelia Petsalaki @epetsalaki.bsky.social · 14/07/2026
Our MASLD paper is finally out @naturemetabolism.bsky.social @ebi.embl.org @opentargets.org ! Fantastic collaboration with Toni Vidal-Puig's group in the IMS, UCam (co-led), Papatheodorou @earlhaminst.bsky.social and other coauthors, led by Ioannis Kamzolas and Thodoris Koutsandreas. Check it out!
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Open Targets @opentargets.org · 14/07/2026
Out now in Nature Metabolism! 🖥️🧬 An Open Targets project has identified a set of plasma proteins that could be used to diagnose and monitor patients with Metabolic dysfunction-Associated Steatotic Liver Disease (MASLD) www.nature.com/articles/s42...
nature.com
A data-driven framework reconstructs the molecular continuum of human MASLD progression - Nature Metabolism
A trajectory-based molecular framework reveals coordinated temporal shifts in metabolic, inflammatory and fibrogenic mechanisms across the human MASLD spectrum.
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Open Targets @opentargets.org · 07/07/2026
VIDRA is out now on medRxiv! Variant-Informed Dose-Response Analysis (VIDRA) is a computational framework which infers genetic dose-response relationships by integrating trait-associated variants across a spectrum of allele frequencies and functional consequences. www.medrxiv.org/content/10.6...
medrxiv.org
Genetic dose-response modelling predicts drug mechanisms, dosing, and adverse events
Understanding how changes in gene function affect disease risk is central to drug development. Genetic variants are natural perturbations of gene activity and provide an opportunity to systematically ...
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Open Targets @opentargets.org · 30/06/2026
“The scale at which we’re doing things, and in such an unbiased way, means that anything could come out of it. You have to be open to a new theory or something completely out of the ordinary happening.” Lewis Evans is @sangerinstitute.bsky.social Senior Staff Scientist and Open Targets project lead
A man gestures at a scientific poster on a wall of posters, pointing something out to the woman standing next to him.
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Open Targets @opentargets.org · 30/06/2026
The Open Targets Platform 26.06 release is out now! ✋ 🔴 Find out about all the updates on the blog: blog.opentargets.org/open-targets...
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Open Targets @opentargets.org · 23/06/2026
“There isn’t anywhere else in the world where you’ve got genomics, computational, clinical, biological, and pharmaceutical expertise all in one group or consortium.” @mhaniffa.bsky.social discusses her experience working with partners across industry and academia as part of her Open Targets project
Next to a photo of Muzlifah Haniffa, Deputy director and head of the cellular genomics prorgamme at the Wellcome Sanger Institute, a quote reads: working through Open Targets has allowed us to partner with exactly the right people, without constraints. This kind of collaboration creates a real sense that we can accelerate progress towards clinical translation—moving faster and more effectively thanks to the breadth of expertise from many different disciplines.
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Open Targets @opentargets.org · 18/06/2026
How do you ensure the stability of a platform with millions of data points updated every release? You start testing patterns In the last release of the Open Targets Platform, we implemented automated end-to-end testing into our development workflow 🧬🖥️ blog.opentargets.org/end-to-end-t...
blog.opentargets.org
Ensuring stability of the Open Targets Platform: the case for automated end-to-end testing
As a platform grows in complexity, maintaining stability becomes increasingly difficult. The Open Targets Frontend Team has introduced automated end-to-end testing to ensure that core user journeys an...
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Reposted by Open Targets
Wellcome Sanger Institute @sangerinstitute.bsky.social · 15/06/2026
New study into Crohn’s disease helps explain why gut inflammation persists, and could help unlock more targeted treatments for patients. Researchers analysed millions of gut cells, uncovering lasting molecular changes and key inflammatory immune cells. 👇 www.sanger.ac.uk/news_item/ce...
sanger.ac.uk
Cellular study maps gene activity changes across more than 50 gut cell types in Crohn’s disease
The latest IBDverse study identifies the genes expressed in Crohn's disease, revealing a lasting 'molecular scar' in the gut lining.
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Open Targets @opentargets.org · 15/06/2026
Out now in Nature Genetics! The largest single-cell RNA sequencing dataset of terminal ileal biopsies profiles 1.1 million cells from over 100 Crohn’s disease patients and over 200 healthy controls. Crohn’s disease is a type of inflammatory bowel disease (IBD) www.nature.com/articles/s41...
nature.com
Single-cell RNA sequencing of terminal ileal biopsies identifies signatures of Crohn’s disease pathogenesis - Nature Genetics
IBDverse is a single-cell RNA atlas of terminal ileal biopsies comprising 1.1 million cells from 111 patients with Crohn’s disease and 232 healthy participants. Analysis of the data identifies genes, ...
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Open Targets @opentargets.org · 09/06/2026
“Open Targets has had the single biggest impact in integrating the @sangerinstitute.bsky.social and @ebi.embl.org science, above and beyond any other initiative I’ve seen in that time." 🤝
22% of active Open Targets projects involve collaborations between EMBL-EBI and the Wellcome Sanger Institute. The accompanying graphic shows shaking hands as if making a business deal, with one hand in EBI green and one in Sanger blue.52% collaborate across academic teams within their institute. The accompanying graphic shows shaking hands, with the sleeves either two shades of EBI green or two shades of Sanger blue. 100% collaborate with Open Targets industry partners. The accompanying graphic shows shaking hands on a yellow background representing that all of them involve industry partners.
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Open Targets @opentargets.org · 03/06/2026
Out now in Nature! Genetic analysis of the largest single-cell dataset of Inflammatory Bowel Disease (IBD)-relevant tissues nominates effector genes and cell types at over half of known IBD loci, including 74 for which this is the first candidate effector gene 🖥️🧬 www.nature.com/articles/s41...
nature.com
Cell-type-resolved genetic variation shapes inflammatory bowel disease risk - Nature
Single-cell mapping of cis-expression quantitative trait loci in inflammatory bowel disease revealed distal, enhancer-enriched variants detected at the cell-type level more frequently co-loc...
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Open Targets @opentargets.org · 01/06/2026
We're at #ESHG2026! Come say hello and find out about current Open Targets projects. See you there!
Under a banner with the ESHG 2026 graphic, a list of presenters, title sessions, and timings.

Gosia Trynka, Chair, S01. Hunting for effector genes from GWAS studies, June 13, 8:30

Chair, C17. In QTLs We Trust: Linking Genotype to Function, June 14, 10:30

Chair, S11. High-throughput perturbation methods to study disease, June 14, 14:00

Chair, S12. Blood as a window: genetic insights into health, aging, and immune function, June 15, 08:30

Tobi Alegbe, Chair, C17. In QTLs We Trust: Linking Genotype to Function, June 14, 10:30Under a banner with the ESHG 2026 graphic, a list of presenters, title sessions, and timings.

Haerin Jang, P16.032.B Single cell eQTL mapping of immune response regulation in systemic lupus erythematosus patients, Poster viewing with authors June 13, 16:00

Yakov Tsepilov, C32.6 Integration of 100,526 public GWAS defines pervasive pleiotropy and informs drug-target selection, June 15, 11:45

Ellen McDonagh, E06.2 Understanding rare diseases with digital twins, June 15, 17:45
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Ben Lehner @benlehner.bsky.social · 28/05/2026
Excited to release #OpenSplice - the impact of >500,000 mutations on the alternative splicing of 600 human exons www.biorxiv.org/content/10.6... Led by @gioia-quarantani.bsky.social + funded by @opentargets.org ‬ @sangerinstitute.bsky.social @crg.eu #cshlsymp26 #RNA2026 @rnasociety.bsky.social
biorxiv.org
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Open Targets @opentargets.org · 27/05/2026
Introducing OpenSplice, an atlas of splice-altering variants and the largest systematic analysis of splicing regulatory variants OpenSplice quantifies the impact of 590,000+ variants on the splicing of 608 alternatively spliced exons, and is out now on bioRxiv 🧬🖥️ www.biorxiv.org/content/10.6...
Figure 2 from the publication: Heatmap of ΔPSI values for all 585 most completely characterized exons (>50% designed variants recovered), ordered by wild-type (WT) PSI (left color bar).

Underneath is the reference to the paper, between the bioRxiv and Open Targets logos: Quarantani, G., et al. (2026) OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons
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Gioia Quarantani @gioia-quarantani.bsky.social · 26/05/2026
1\ Excited to finally share some of my PhD work: OpenSplice! We measured how >590,000 mutations affect exon inclusion across 600 human exons, creating a resource to study splicing regulation, benchmark variant effect predictors, and support variant interpretation.
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Open Targets @opentargets.org · 26/05/2026
Design is a team sport. Galabina Yordanova and Adedoyin Okunade share how they crafted an intuitive experience for the Perturbation Catalogue through user research and iterative design. blog.opentargets.org/designing-th...
blog.opentargets.org
Designing the Perturbation Catalogue—a UX journey through perturbation data
The Perturbation Catalogue brings genetic perturbation data into one curated, harmonised, and discoverable platform. Once the data is in, how do you ensure it's useful and structured in a way that ans...
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Open Targets @opentargets.org · 21/05/2026
GWAS discovery is far from saturation. We need more GWAS, and more diverse GWAS 🧬🖥️
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Open Targets @opentargets.org · 19/05/2026
How do you present complex information in an easily understandable and visually appealing way? Our web developer Graham McNeill walks you through our design process for visualising locus-to-gene scores in the Platform: blog.opentargets.org/design-proce...
blog.opentargets.org
Visualising complex data in the Open Targets Platform: our design process for Locus-to-Gene scoring representation
Our Shapley value-based explanations for Locus-to-Gene scores presented a design challenge of providing a diverse range of users with an intuitive ‘explanation’ of the score but also ensuring enough d...
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Open Targets @opentargets.org · 14/05/2026
"Beyond the technical aspects of large-scale data analysis, the internship gave me a clearer view of how deep biological knowledge and genetic evidence can be combined to support target discovery and safety assessment." 🖥️🧬 blog.opentargets.org/from-genetic...
blog.opentargets.org
From genetic perturbation to drug safety: Sam Moix’s internship at Open Targets
Working with a team at the forefront of large-scale biomedical data integration, I learned a great deal about large-scale data processing, reproducible research, human genetics, and the challenges of ...
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Open Targets @opentargets.org · 12/05/2026
Want to maximise your chance of clinical success? Gene-disease associations with: 1️⃣ Genetic support from protein-altering variants 2️⃣ Intermediate pleiotropy are 10 times more likely to result in approved medicines, balancing impactful genetic variation with genetically informed safety liability
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Open Targets @opentargets.org · 07/05/2026
How can you compare cells across conditions? We chat to Marie Moullet about Tripso, a self-supervised transformer model she co-developed for single cell data analyses going beyond canonical cell type markers and annotations to understand cell states blog.opentargets.org/how-the-lotf...
blog.opentargets.org
How the Lotfollahi lab created Tripso to interpret single cell data
Marie Moullet describes Tripso—Transformers for learning Representations of Interpretable gene Programs in Single-cell transcriptOmics—a method for single cell data analyses that goes beyond canonical...
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Open Targets @opentargets.org · 06/05/2026
Our findings from the largest systematic analysis of complex trait associations is out now on bioRxiv! 🧬🖥️ www.biorxiv.org/content/10.6...
Pleiotropy map of disease-associated genes arranged by chromosome around the outer ring, showing the number of unique diseases and therapy areas associated with the gene.
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David Ochoa @d0choa.bsky.social · 01/05/2026
🧬 New preprint: "The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications" Why do some genetically supported drug targets succeed in the clinic while others fail? Across 100,526 GWAS, the same evidence flags constrained gene functions rarely safe to modulate.
The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications
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Europe PMC @europepmc.org · 23/04/2026
What a conversation! 🙌 Thank you to everyone who joined "Closed Licences, Closed Doors" with @knowledgerights21.org Do restrictive licences protect your research from AI, or just limit its impact? Couldn't make it? Watch the recording 👇 youtu.be/BprlLw6CRyI #OpenScience #AcademicSky 🧪
youtu.be
Closed licences closed doors: Open licensing, AI, and the future of research impact
YouTube video by EuropePMC
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Europe PMC @europepmc.org · 13/04/2026
📣Tomorrow: Closed Licences, Closed Doors webinar! Join us and @knowledgerights21.org to find out about open licensing, AI, and the future of research impact! 🗓️ 14 April | ⏰ 10:00 BST/11:00 CEST There's still time to register 👉 embl-org.zoom.us/meeting/regi... #OpenScience #AcademicSky 🧪
embl-org.zoom.us
Welcome! You are invited to join a meeting: Closed licences, closed doors: Open licensing, AI, and the future of research impact. After registering, you will receive a confirmation email about joining...
Open licensing and copyright are important aspects of publishing research, but what do they mean in practice? Creative Commons (CC) licences offer a standardised framework for sharing research outputs...
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Open Targets @opentargets.org · 30/03/2026
🧬🖥️ Introducing TRIPSO: a transformer network to help interpret single cell data analyses by learning multiple predefined or data-driven gene programme-specific embeddings Tripso was developed by a team across the Lotfollahi, Haniffa, Gottgens and Vento labs www.biorxiv.org/content/10.6...
biorxiv.org
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Europe PMC @europepmc.org · 25/03/2026
The reveal is here! Meet your experts: 🎤 Presentations: Dr. David Hulcoop @opentargets.org Dr. Benjamin White @knowledgerights21.org Dr. Summer Rosonovski #EuropePMC 💬 Panel: Melissa Harrison #EuropePMC @ebi.embl.org Dr. Kiera McNeice Research Transparency Manager* Dr. Bastian Drees @embl.org
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David Ochoa @d0choa.bsky.social · 23/03/2026
The Open Targets Platform spring 🌼 release is out — and this one marks the beginning of something we've been building towards for a while.
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Open Targets @opentargets.org · 23/03/2026
The Open Targets Platform spring (26.03) release is out now! 🌸 Find all the details of the updates on the blog: blog.opentargets.org/open-targets...
26.03 Release highlights from the Open Targets Platform. Not covered by the next photos: update to the official Open Targets MCP.285,000 clinical reports across 13 stages. Context: Clinical trial data feeds into our entity profile pages, and informs target-disease associations and target prioritisation. In this release, our new clinical mining pipeline brings in data from: ClinicalTrials.gov via AACT, ChEMBL, Therapeutic Target Database, European Medical Agency, Japan's Pharmaceuticals and Medical Devices AgencyE2G predictive features added to L2G. Context: the ENCORE-rE2G model integrates molecular features and large-scale perturbations to predict and score links between variants and transcriptional regulatory elements in a given cell. In this release, to add regulatory context to our Locus-to-Gene (L2G) machine learning model, we have used the scores to add two features: e2gMean, and e2gNeighbourhoodMean. There is a corresponding new column in the L2G Shapley visualisations on the Platform.New data from the GWAS Catalog. In this release, we have 710 new studies from 97 publications, resulting in over 5,000 new credible sets, including the biggest study for hypothyroidism we have ingested. Also, we have updated String and Intact, as well as ClinVar and PGx through the European Variation Archive.

Find all the details of this release on the Open Targets blog: blog.opentargets.org
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Europe PMC @europepmc.org · 19/03/2026
Closed licences, closed doors. We're hosting a webinar with @kr21.bsky.social exploring how licensing shapes real-world research impact, from @opentargets.org to pandemic response. Speaker panel reveal soon 👀 🗓️ 14 April ⏰ 10:00 BST 🔗 embl-org.zoom.us/meeting/regi... #OpenScience #AcademicSky 🧪
embl-org.zoom.us
Welcome! You are invited to join a meeting: Closed licences, closed doors: Open licensing, AI, and the future of research impact. After registering, you will receive a confirmation email about joining...
Open licensing and copyright are important aspects of publishing research, but what do they mean in practice? Creative Commons (CC) licences offer a standardised framework for sharing research outputs...
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Open Targets @opentargets.org · 12/03/2026
Introducing PerturbGen: a generative AI foundation model that predicts how genetic perturbations affect cellular trajectories www.biorxiv.org/content/10.6...
Screenshot of the HSPC perturbation atlas, showing genes clustered by gene programme. Clicking on one brings up predicted perturbation results for that gene.
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Open Targets @opentargets.org · 12/03/2026
Out now on bioRxiv! 🧬🖥️ Dewi Moonen, @anniquec.bsky.social and a team led by Lars Steinmetz and Daniel Schraivogel at EMBL have mapped the downstream regulatory networks of thousands of immune disease-relevant variants in CD4+ T cells www.biorxiv.org/content/10.6...
biorxiv.org
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Carlos Cruz @carcruz.dev · 15/02/2026
Finally I can properly explore the mcp-ui pattern. Pretty interesting how the development of new components (especially complex ones) will change dramatically in how data is loaded into them. Exiting times🔥 building a demo using @opentargets.org components. Ref: mcpui.dev
mcp-ui demo showing a description of the aim of the demo
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Open Targets @opentargets.org · 03/03/2026
What does game theory have to do with gene predictions? Irene Lopez explains how we apply Shapley value-based explanations for Locus-to-Gene scores in the Open Targets Platform, addressing a common concern of machine learning models: explainability 🧬🖥️ blog.opentargets.org/how-we-impro...
A poker player lifts the corner of their cards on a table strewn with chips and playing cards, revealing a pair of kings.
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Open Targets @opentargets.org · 04/02/2026
🧬🖥️ Our latest publication reveals a shift in strategies to discover novel drug targets over the past 20 years: after 2015, biomedical evidence supporting a target-disease indication increasingly appears before the approval year www.nature.com/articles/s41...
nature.com
Temporal trends in evidence supporting novel drug target discovery - Nature Communications
Here the authors implement a comprehensive timestamping across millions of pieces of biomedical evidence supporting target–disease associations in the Open Targets Platform and analyse trends in evide...
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Open Targets @opentargets.org · 02/02/2026
Open Targets Platform data is now available on @amazonwebservices.bsky.social through the Open Data Program! registry.opendata.aws/opentargets/
Where to access Open Targets Platform data? 
Web interface, API and API playgrounds, Data downloads, Google BigQuery public dataset, Microsoft Azure Open Dataset, and new: AWS Open Data
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EMBL-EBI @ebi.embl.org · 27/01/2026
🔬New Perturbation Catalogue update! With a redesigned interface, richer datasets and powerful analysis workflows, it’s now easier than ever to explore genetic perturbation data. www.ebi.ac.uk/perturbation... #Bioinformatics #FunctionalGenomics @training.ebi.embl.org @opentargets.org
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Open Targets @opentargets.org · 27/01/2026
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...
Perturbation Catalogue home page showing key metrics
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Open Targets @opentargets.org · 26/01/2026
🧬🖥️ "This integration is a great example of bringing leading AI to platforms and data that are already widely used across the industry.” — Jonah Cool, Head of Life Sciences Partnerships, Anthropic Find out more about the Open Targets Platform MCP server: blog.opentargets.org/official-ope...
blog.opentargets.org
Introducing the official Open Targets Platform Model Context Protocol
We have released the first iteration of a dedicated MCP server to bring our systematic target discovery capabilities to Large Language Model (LLM)-based workflows.
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David Ochoa @d0choa.bsky.social · 23/01/2026
The needle in the haystack problem: spotting novel drug targets among redundant evidence. Our solution? A time-series novelty metric for Open Targets Platform associations. Thanks to Coté Falaguera & @opentargets.org partners for making this happen.
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Open Targets @opentargets.org · 22/01/2026
Out now in Nature Communications! 🧬🖥️ An Open Targets team developed a metric for the novelty of a target in the context of a disease, according to current available knowledge. This allows drug discovery scientists to easily identify potentially novel targets www.nature.com/articles/s41...
nature.com
Temporal trends in evidence supporting novel drug target discovery - Nature Communications
Here the authors implement a comprehensive timestamping across millions of pieces of biomedical evidence supporting target–disease associations in the Open Targets Platform and analyse trends in evide...
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Open Targets @opentargets.org · 21/01/2026
Out now! 🧬 Loss of CHD1 and MAP3K7 creates an acquired cancer vulnerability, highlighting these genes as potential biomarkers of immune checkpoint blockade response Find out more: www.cell.com/cell-reports...
cell.com
CRISPR screens in the context of immune selection identify CHD1 and MAP3K7 as mediators of cancer immunotherapy resistance
Immunotherapies only provide benefit for a subset of individuals with cancer, highlighting the need for biomarkers of response. Using whole-genome CRISPR-Cas9 screens, Watterson et al. map genetic dep...
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Wellcome Sanger Institute @sangerinstitute.bsky.social · 20/01/2026
New biomarkers for cancer immunotherapy have been identified. 🔎 Researchers found that loss of two genes, CHD1 and MAP3K7, makes tumours more likely to respond to immunotherapy. The findings could help support more personalised cancer treatment 👇 bit.ly/4sMBTq2
bit.ly
Immunotherapy success could be predicted with new biomarkers
Scientists pinpoint two cancer genes that when deleted, improve the vulnerability of tumour cells to immunotherapy.
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Open Targets @opentargets.org · 20/01/2026
We're recruiting 3 roles through @sangerinstitute.bsky.social 👩‍🔬🧬💻 NEW: ➡ Postdoc with @carlanderson.bsky.social ➡ Technical Specialist with @bayraktarlab.bsky.social ALSO: ➡ (Senior) Postdoc in Mo Lotfollahi’s lab More information in the thread See all available jobs: opentargets.org/jobs
opentargets.org
Jobs - Open Targets
Open Targets is a public-private initiative to generate evidence on the validity of therapeutic targets based on genome-scale experiments and analysis.
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