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Posts by Sam Lambert

GWAS Catalog The NHGRI-EBI GWAS Catalog: a curated collection of all published genome-wide association studies, produced by a collaboration between EMBL-EBI and NHGRI

777 studies, 745 with summary statistics - the @genesandhealth.bsky.social WES study is now in the GWAS Catalog, aiming to improve health outcomes for South Asian populations. Go explore πŸ‘‡
www.ebi.ac.uk/gwas/publica...

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Laboratory Head in Biomedical Data Science Job in Melbourne VIC - SEEK Lead a biomedical data science lab, secure funding, publish research and collaborate globally to drive impactful cardiometabolic outcomes.

We are recruiting a PI in biomedical data science at @bakerresearchau.bsky.social in Melbourne!

A fantastic opportunity and do get in touch if any q's! www.seek.com.au/job/91619982...

2 days ago 3 9 0 0
Human heart with blood vessels. 3d illustration

Human heart with blood vessels. 3d illustration

🚨 Funded PhD Opportunity (Oct 2026 start)

10 funded 4-year PhD studentships are available through
@thebhf.bsky.social doctoral training programme focused on preventing cardiovascular disease through innovative, data-driven approaches

πŸ‘‰Info on how to apply tinyurl.com/yc7j5s67

@dphpc.bsky.social

1 month ago 3 1 2 0
BHF 4-Year PhD Studentships in Cardiovascular Disease Prevention University of Cambridge, University of Edinburgh, Imperial College London and University of Oxford Applications are invited for up to 10 funded 4-year PhD studentships starting in October 2026, as

BHF 4-Year Studentship - Closing Date 16 April 2026 www.cam.ac.uk/jobs/bhf-4-y...

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Very apt, because it always puzzles me when snooker plays on tv here.

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Farewell Wake Island! You guys really shared so many amazing stories, authors, music, film. Truly mind opening during the pandemic.

3 months ago 1 0 0 0
Assistant/Associate Professor in Respiratory Medicine (Honorary Consultant) (Fixed Term) An exciting opportunity has arisen for a new University of Cambridge-Royal Papworth Hospital NHS Foundation Trust Assistant/Associate Professor in Respiratory Medicine. We are seeking applications

Are you an emerging clinical academic leader in respiratory medicine?
Come and join @vpd-hlri.bsky.social and @royalpapworth.bsky.social and build your career!
Get in touch if you’d like to discuss.

www.cam.ac.uk/jobs/assista...

4 months ago 5 6 0 0
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Assistant/Associate Professor in Cardiology (Honorary Consultant) (Fixed Term) An exciting opportunity has arisen for a new University of Cambridge - Royal Papworth Hospital NHS Foundation Trust Assistant/Associate Professor in Cardiology. We are seeking expressions of interest

🚨Wanted…emerging clinical academic leader in cardiology to join @vpd-hlri.bsky.social and @royalpapworth.bsky.social.
Get in touch if you’d like to discuss the role. We’d love to hear from you!

www.cam.ac.uk/jobs/assista...

4 months ago 3 4 0 0
UK Biobank Research Analysis Platform tutorial | PGS Catalog Calculator documentation. How to calculate polygenic scores on the UK Biobank Research Analysis Platform

We hope it's easy to use with tutorials for UKB (pgsc-calc.readthedocs.io/en/v3-alpha....) & All of Us (pgsc-calc.readthedocs.io/en/v3-alpha.... )! But feel free to contact us on Github: github.com/PGScatalog/p...!

With that, happy holidays from the PGS Catalog team! 🎁 πŸŽ„

4 months ago 2 1 0 0

The new alpha only implements PGS scoring at the moment, but the roadmap will reimplement our existing genetic ancestry tools! Lot's of under-the-hood optimisation using python (zarr, dash), and it only takes VCF or BGEN input atm. github.com/PGScatalog/p...

4 months ago 2 1 1 0
pgsc_calc: a reproducible workflow to calculate polygenic scores | PGS Catalog Calculator documentation. The `pgsc_calc` workflow makes it easy to calculate a polygenic score

Wish it was easier to calculate PGS in trusted research environments (TRE) like DNAnexus or the All of Us workbench? Us to! We've been hard at work on a new version of pgsc_calc to make it more scalable in those TREs! Introducing pgsc_calc v3.0.0-alpha.1: pgsc-calc.readthedocs.io/en/v3-alpha.1/

4 months ago 9 7 1 0
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Just published @ Eur Heart J: Combined clinical, metabolomic, and polygenic scores for cardiovascular risk prediction academic.oup.com/eurheartj/ad...

tl;dr these next-gen risk factors could boost the number of CVD events prevented by +80% while keeping treatment efficiency (NNT) the same.

4 months ago 17 5 1 1
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Wonderful contributions from many... tagging in bsky's I know @cfoguet.bsky.social @xilinjiang.bsky.social @yuxu.bsky.social @sritchie73.bsky.social @iamslambert.bsky.social @aidanbutty.bsky.social @stevesphd.bsky.social

5 months ago 6 3 0 0
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πŸ“£πŸ“£πŸ“£ Excited for our lab's latest preprint, led by Chief Ben-Eghan! www.medrxiv.org/content/10.1...

tl;dr We identify protein vQTLs in multiple ancestries then use MVMR to show independent effects of mean & variance on disease, suggesting targeting protein variance could have therapeutic potential.

5 months ago 29 9 1 0
GitHub - PGScatalog/pgsc_calc: The Polygenic Score Catalog Calculator is a nextflow pipeline for polygenic score calculation The Polygenic Score Catalog Calculator is a nextflow pipeline for polygenic score calculation - PGScatalog/pgsc_calc

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).

5 months ago 10 6 1 0
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PGS Catalog - The Polygenic Score Catalog The Polygenic Score (PGS) Catalog is an open database of published PGS and the relevant metadata needed to apply and evaluate them correctly.

Another month and lots of new & useful data added to www.PGSCatalog.org! Including new multi-ancestry insulin resistance scores, a score tailored for heart failure in East Asian individuals & more!

5 months ago 7 5 1 0
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PEGs Workshop Friday, October 17th | 11:45AM – 1:15PM | Convention Center room 259A The meeting will open with an introduction (Noel Burtt), include a recap of the landscape analysis (Laura Harris), presentation…

🚨 Countdown to #ASHG25: Predicted Effector Gene standard is coming! 🚨 Join us and be part of the conversation!
πŸ“Œ Poster Oct 16 | 2:30–4:30 | Poster Hall
πŸ—“οΈ Session Oct 17 | 11:45–1:15 | Room 259A
Learn more: kpnashg2025.wordpress.com/pegs-workshop/

6 months ago 5 3 0 0
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Current polygenic risk scores are unlikely to exacerbate unfairness in cardiovascular disease risk prediction Background Current cardiovascular disease (CVD) risk prediction models place many individuals in an intermediate risk category where clinical decision-making remains uncertain, highlighting a critical...

ICYMI πŸ‘‰ Quantifying the fairness of polygenic risk scores: our modelling and analysis for CVD risk prediction www.medrxiv.org/content/10.1...

Overall PRS fairness levels similar to or better than traditional predictors (age, sex, BP, lipids)

h\t @iamslambert.bsky.social @clairecoffey.bsky.social

6 months ago 7 4 1 0
Estimating disorder probability based on polygenic prediction using the BPC approach Nature Communications - Here the authors present a method to transform polygenic scores into disorder probabilities using only GWAS summary statistics, genotype data and a prior - no tuning sample...

Our new paper is out, in which we developed an approach to transform Polygenic Scores (PGSs) into disorder probabilities (i.e., the absolute lifetime disorder risk).

Below a thread πŸ‘‡

open access link: rdcu.be/eIjvC

6 months ago 19 6 1 0
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Current polygenic risk scores are unlikely to exacerbate unfairness in cardiovascular disease risk prediction Background: Current cardiovascular disease (CVD) risk prediction models place many individuals in an intermediate risk category where clinical decision-making remains uncertain, highlighting a…

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...

7 months ago 17 6 1 0

On a personal note, it's great to have the first preprint out from my first PhD student! bsky.app/profile/clai...

7 months ago 3 2 0 0

There's much more in the preprint - a great team effort from @clairecoffey.bsky.social @sritchie73.bsky.social, Lisa Pennells, Angela Wood & @mikeinouye.bsky.social all from @cambridge-ceu.bsky.social!

7 months ago 2 2 1 0
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Clinical statements (AHA, ESC) have suggested that PRS may be most useful as a risk-enhancing factor for those at intermediate risk. We used PRS to reclassify individuals at intermediate risk by QRISK3 and showed improved sensitivity and fairness benefits (particularly for age & sex).

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We evaluated PRS in two contexts, as a standalone risk predictor and as a risk-enhancing factor. Given the known performance differences across ancestries, we were surprised to find that the fairness of PRS predictions across ethnicities was equal to or lower other CVD risk factors when used alone.

7 months ago 1 2 1 0
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Current polygenic risk scores are unlikely to exacerbate unfairness in cardiovascular disease risk prediction Background: Current cardiovascular disease (CVD) risk prediction models place many individuals in an intermediate risk category where clinical decision-making remains uncertain, highlighting a…

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...

7 months ago 17 6 1 0
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Awesome work by @clairecoffey.bsky.social @iamslambert.bsky.social @sritchie73.bsky.social Lisa Pennells and Angela Wood

7 months ago 7 3 0 0
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Current polygenic risk scores are unlikely to exacerbate unfairness in cardiovascular disease risk prediction Background: Current cardiovascular disease (CVD) risk prediction models place many individuals in an intermediate risk category where clinical decision-making remains uncertain, highlighting a critica...

PRS are well know to have variable performance across ancestries, frequently with a European bias. We looked closely at fairness of PRS for CVD risk prediction, both with PRS on it's own and in an integrated risk score...

Our results were surprising... πŸ‘‰ www.medrxiv.org/content/10.1...

7 months ago 28 8 1 0

🚨Exciting fully funded PhD opportunity!

Applications are open for a DTP iCase interdisciplinary PhD studentship in Public Health and Primary Care supervised by @eliasallara.bsky.social

Apply by 2 Dec 2025 πŸ‘‰ www.cam.ac.uk/jobs/dtp-ica...

7 months ago 2 2 0 0
Doctoral Training | Department of Public Health and Primary Care (PHPC) Course Code – MDPU22 A doctorate from the University of Cambridge is primarily a research degree based on a research programme developed in conjunction with a supervisor.

Sept is approaching & I can already hear initial chats/enquiries for potential PhD studies happening!

If you're interested in a PhD, check out our department @cam.ac.uk www.phpc.cam.ac.uk/education-an...

We've a super interdisciplinary faculty spanning primary care, data science, epidemiology etc

7 months ago 10 7 1 0
Research Associate*/Research Assistant in Sustainability of AI (Fixed Term) An exciting opportunity has arisen for a talented researcher to join our team as part of the Green Algorithms Initiative, one of the leading academic teams in the field of sustainable computing. The

⏰ Last couple of days to apply to join my group @Cambridge as a postdoc and work on the environmental (un)sustainability of AI!

⏳ Closing September 16th.

✏️ Apply here: tinyurl.com/2ukkp8yx

Or learn more about what we do at www.lannelongue-group.org

Initial examples of research projects below πŸ‘‡

7 months ago 10 9 1 0