Stay tuned here for upcoming updates to pgsc_calc (github.com/PGScatalog/p...), our tool for reproducible PGS calculation. Our next version aims to increase the scalability to WGS data in cloud trusted research environments (e.g. All of Us).

New PhD position in my lab at @uniofbath.bsky.social (with both @tweethinking.bsky.social & Dr Bethan Littleford-Colquhoun)! We're looking for someone keen on bioinformatics and microbiome evolution. Important info below on eligibility & URSA competition funding👇 www.findaphd.com/phds/project...

Well done @eliasallara.bsky.social! Burden of cardiovascular diseases in England (2020–24): a national cohort using electronic health records data. www.thelancet.com/journals/lan...

Algorithmic fairness metrics have made big inroads in the AI/ML fields to investigate model bias. A clever PhD student (@clairecoffey.bsky.social) thought, why don't you see these methods applied to CVD risk prediction or polygenic risk scores? Enter our new preprint: www.medrxiv.org/content/10.1...

📣📣 Cool job alert! The @bakerresearchau.bsky.social is recruiting up to 2 new PIs in Biomedical Data Science 👉 www.seek.com.au/job/85989791... You’d join an awesome institute in an incredible city (Melbourne, Australia) as well as partnerships like with @cam.ac.uk… you’ll also get to work with me 😁

Wish we could've cited this highly relevant (and consistent) study, published nearly the same time: Psychological & emotional impacts of communicating breast cancer risk using multifactorial assessment with polygenic risk score: Findings from PERSPECTIVE I&I www.sciencedirect.com/science/arti...

The concept of personalised health is at the centre of a renewed NHS and its 10 Year Health Plan says Prof Mike Inouye (thank you @mikeinouye.bsky.social)as we put 'Making personalised health work for population health' in the spotlight. Read it here: lnkd.in/eRDY5q2j #personalisedhealth

Variation and prognostic potential of the gut antibiotic resistome in a population-based cohort www.nature.com/articles/s41... We look at the risks and sociodemographic aspects of antimicrobial resistance, and its association with recent global urbanization and middle-class growth.

Our study led by @romitb.bsky.social & C. Marnell shows that, when simultaneously considering clinical, laboratory, and genetic risk factors for incident CAD prediction, the top 2 model explanatory factors are: 1. Hypertension 2. CAD polygenic risk score www.ahajournals.org/doi/10.1161/...

📣 Clap de fin for my PhD work 🎬! The fourth and final article is now available in @commsmed.nature.com. We benchmarked a set of PGS for cardiovascular traits available from the pgscatalog.org resource in different Canadian cohorts🍁. See more 👇🏽 - Link (OA): www.nature.com/articles/s43... (1/4)

Super excited to see beginning integration of PredictDB into OmicsPred! We've annotated/deposited the GTExV8 gene expression predictors so they are now available alongside all the other multi-omic predictors at www.omicspred.org More on its way... a wonderful collab with @hakyim.bsky.social & co!

📣📣 Preprint just out from the awesome Xilin Jiang, Yujie Zhao & co! Pleiotropic heritability quantifies the shared genetic variance of common diseases www.medrxiv.org/content/10.1... The overlap of disease aetiologies is surprisingly pervasive... ~50% of common disease heritability is pleiotropic!

Its been an absolute pleasure to have @gmeric.bsky.social in the lab for the last 7 years (omg has it been that long) Guillaume published a bunch of awesome studies (personal fav www.nature.com/articles/s41...) and continues his research programme as an Assoc Prof of Microbiome at the Univ of Bath!

@hasanga.bsky.social from @mikeinouye.bsky.social / @cambridgebaker.bsky.social @cambridge-ceu.bsky.social sharing new results for local-ancestry effects on CAD risk loci. #ESHG2025

📣 Psychological & behavioural considerations for integrating polygenic risk scores for disease into clinical practice www.nature.com/articles/s41... Saskia Sanderson & I wrote a piece assessing the common concern that PRS may have psych/behavioural harms tl;dr 👉 There's little/no evidence for this

📣 Interested in the environmental (un)sustainability of AI (and how to support positive change)? Or know someone who is? I have an open position for a postdoctoral researcher to join my group in Cambridge, UK 🌱 🚨Closing June 5th www.jobs.cam.ac.uk/job/51255/ Topics below 👇 #AcademicSky #GreenSky

Very excited to share our preprint led by M. Levin @skoyama.bsky.social J. Woerner & with S. Damrauer assessing genome-wide pleiotropy of >1,000 clinical traits across ~1.7M individuals with nearly 30K locus-trait associations! www.medrxiv.org/content/10.1... @medrxivpreprint.bsky.social

Honored to contribute to the @aspcardio.bsky.social Clinical Practice Statement on optimizing cardiometabolic health among South Asian individuals spearheaded by A. Rohatgi @drmarthagulati.bsky.social J. Patel www.sciencedirect.com/science/arti...

📣 Feeling extremely lucky to have modestly contributed to this masterpiece, investigating the impact of loss-of-function mutations in APOC3 gene on aortic valve disease risk reduction. See more in JACC 👇🏽 www.jacc.org/doi/10.1016/...

📣 Thrilled to share this paper. We leveraged transcriptomic data from one of the largest existing aortic valve collection. We identified genes/pathways involved in disease progression/severity, with distinct transcriptomic signatures in TAV vs BAV. Perspectives for potential therapeutics? See more👇🏽

This study is a big deal. Is it going to be the one that kicks down the PRS door? Maybe. And that’s saying something. Assessment of a Polygenic Risk Score in Screening for Prostate Cancer www.nejm.org/doi/full/10....

Can testify to this -> awesome research environment, with access to great ressources, sharing space and time with incredible colleagues and renowned experts...

Our work on metabolic reaction fluxes as amplifiers and buffers of risk alleles for coronary artery disease is finally out in @molsystbiol.org ! www.embopress.org/doi/full/10.... A short thread on our key findings 🧵👇

Interested in calculating polygenic scores in the All Of Us workbench? Like those from @pgscatalog.bsky.social? Take a look at our new documentation for how to run pgsc_calc in the cloud environment: pgsc-calc.readthedocs.io/en/latest/ho.... Very much work-in-progress, optimisations incoming!

Pleased to have been able to make a modest contribution to this piece about the genetic contributors to and consequences of socioeconomic status, initiated and led by @dr-appie.bsky.social . Share with your social science friends!

Our paper on ancient human population structure is now published. We find that the ancestors of modern humans lived in multiple populations during the period when Homo sapiens evolved in Africa. www.nature.com/articles/s41...

Watching the US take a wrecking ball to science 💔 🤯 Reminder of the importance of doing science in the open. Put data, software, resources in public domain, where no single govt can erase them. This is our collective knowledge. Distributed data systems are essential. www.nature.com/articles/s41...

📣 More data on the impact of high Lp(a) levels on Aortic Valve Disease/CAVS! Patients are more likely to undergo AV replacement during their life course, and face a higher risk of combined CV events. Link (Open Access)👇🏽: www.ahajournals.org/doi/10.1161/...

I passed my PhD viva! 🎉 Thank you to everyone who has been a part of this incredible journey, especially my supervisors @iamslambert.bsky.social, Angela Wood, and @mikeinouye.bsky.social 😄

📣 New from the lab: The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes www.nature.com/articles/s41... Check out the INTERVAL RNAseq portal www.intervalrna.org.uk Led by @alextokolyi.bsky.social & Elodie Persyn!

And it's free 😀

📣📣Genomic data sharing: you don’t know what you’ve got (till it’s gone) www.nature.com/articles/s41... A comment @natrevgenet.bsky.social from @katholt.bsky.social and me

So fantastic that NPR featured the unexplained troublingly high rates of heart disease among S Asian individuals, and our research efforts with the OurHealth Study to address these issues! www.npr.org/2025/02/11/n... @broadinstitute.org @prsdiversity.bsky.social

Introducing a major upgrade to OmicsPred platform (www.omicspred.org) — a resource to enhance the accessibility and usability of genetic scores for multi-omic traits and their phenotypic associations. (1/N)

Important Statement / Updates from major European actors in cardiovascular disease risk prediction, using genetic approches.

A huge step forward in Europe for the use of PRS as a risk modifier for current clinical risk models of cardiovascular disease (eg SCORE2). academic.oup.com/eurheartj/ad...

Finally! Happy to share my 3rd PhD paper, now published in Atherosclerosis Journal ! 🚀 This study explores the impact of integrating multiple independent lipid PRSs with a CAD-PRS for CAD incidence prediction in UK Biobank! 👉🏽Link (Open Access! 📖) : www.atherosclerosis-journal.com/article/S002...

If you're working with Nightingale Health metabolomics data from UK Biobank, be sure to check out the excellent (and important) work @sritchie73.bsky.social and colleagues have done on its QC and normalisation: www.nature.com/articles/s41... ukbnmr on CRAN: cran.r-project.org/web/packages...

Among British Pakistani & British Bangladeshi individuals, partitioned T2D polygenic load for insulin deficiency & lipodystrophy was higher than white European individuals & predisposed to faster progression to T2D & complications www.nature.com/articles/s41... @natureportfolio.bsky.social

The Catalog isn't just a knowledgebase and source of polygenic scores, we also provide open-soruce tools to make PGS calculation easier and more reproducible! You can find our pgsc_calc tool on github (github.com/PGScatalog/p...) with extensive documentation (pgsc-calc.readthedocs.io/en/latest/).

Let's start with introductions! The PGS Catalog is an open database of polygenic scores and the relevant metadata required for accurate application and evaluation. Everything is on our website www.PGSCatalog.org, and our newest publication describes how far we've come: rdcu.be/d1vTG since 2019!

Announcing version 3.2.0 of the ukbnmr R package now available on CRAN: cran.r-project.org/web/packages... This is a major update that makes the package compatible with the UK Biobank Research Analysis Platform and shows removal of technical variation on the full NMR data release coming Jan 2025