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/...
Thank you to all colleagues involved in this project, supervised by Dr. S. Thériault. Thank you also to all scientists and participants involved in @cartagene.bsky.social, @clsa-elcv.bsky.social and at the Biobanque de l’Institut Universitaire de Cardiologie et de Pneumologie de Québec.
- CAD-PGS is associated with the extent of coronary artery damage observed (coronary angiography data).
- In this study, not all CV-PGS are associated with the severity of CAD; lipid-PGS are.
- Adding independent CV-PGS, in addition to a CAD-PGS, increases the performance of our models, with or without clinical risk factors (clinical interest +++)
Briefly:
- Studied PGSs are all associated with the prevalence of myocardial infarction, suitable for a direct application in Canadians (from European ancestry).
- CAD-PGS and CV-PGS are not/only weakly correlated. Using them in a multivariable model provides better predictive performance.
📣 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 presenting at ESHG 2025
@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
Photo of Cambridge River and view over King's College with a group of people punting.
Photo of the Heart and Lungs Research Institute on Cambridge Biomedical Campus. The building is bronze-colour and in front of a pond.
📣 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...
Excellent work led by Ursula Houessou from Dr. Sébastien Thériault Lab
Important work led by Jérôme Bourgault from Prof. Benoit Arsenault Team.
📣 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!
