The European Health Data Space (EHDS) act represents a incredible opportunity for health data science In a Nature Medicine commentary we discuss the present and future of EHDS This is the result of a workshop with some incredible researchers across EU countries and disciplines rdcu.be/dTKUj

The European Health Data Space can be a boost for research beyond borders

Nature Medicine - The European Health Data Space provides an opportunity to benefit patients and the public.

@michelnivard.bsky.socialwww.medrxiv.org/content/10.1...

Cell-Free DNA GWAS Reveals Importance of p.Arg206Cys in DNASE1L3 for Non-Invasive Testing

medRxiv - The Preprint Server for Health Sciences

Check out our new paper on genetic links with 10 fields of education in >460k ppl. We found overlapping genetic influences on different fields, summarised by 2 key tendencies: Technical v Social and Creative v Conformist osf.io/preprints/ps...

Finally, we use FinRegistry (8,000+ features) + deep-learning to predict 1-year mortality for the entire Finnish population (AUC=0.95)! Derive a powerful digital marker of aging And show predictions are subject to geographical and socio-economic unfairness www.nature.com/articles/s43...

Deep learning-based prediction of one-year mortality in Finland is an accurate but unfair aging marker - Nature Aging

Here the authors show that deep learning accurately predicts one-year mortality using nationwide Finnish data. Despite robust performance and potential as an aging marker, fairness analyses reveal pre...

Second, we show that the variability in polygenic score performance is larger between biobanks than between the methods used to build the scores t.co/ESmOPB8vr9

Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning

Methods of estimating polygenic scores (PGSs) from genome-wide association studies are increasingly utilized. However, independent method evaluation i…

Then a couple of papers on Polygenic Scores. First, we provide country-specific cumulative incidence estimates for 18 diseases by PGS levels. rdcu.be/dKAK4

A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk

Nature Communications - Here the authors present a framework for estimating disease risk using PGS accounting for country, age and sex. They find that PGSs have a significant sex-specific effect on...

Ehi Bsky community, I have been neglecting you! Just want to report some recent work from our team. Let's start with this paper on the causes for loss of chromosome X in women www.nature.com/articles/s41...

Genetic drivers and cellular selection of female mosaic X chromosome loss - Nature

A large-scale meta-analysis across eight biobank datasets identifies common genetic variants associated with mosaic loss of the X chromosome in female participants.

Looking forward to see everyone at #ESHG24 ! We do have great science, also at the 8.30AM session. We do accept scientists coming directly from the club. If anyone wants to catch up, just DM or say hello in person.

very nice to see such a mature use of nation-wide Dutch health data!

In this new pre-print we tried to understand why autoimmune disease and type 1 diabetes co-occur in families using nationwide registries and genetic data. www.medrxiv.org/content/10.1...