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M. Pietzner

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Open access Oct 2026

Harmonizing UK primary care prescription records for research: a case study in the UK biobank

Abstract Objective We aimed to develop and validate an automated, scalable framework to harmonize fragmented UK primary care prescription records into a research-ready dataset by mapping diverse medical ontologies to a unified reference standard from the UK Biobank. Materials and methods Preprocessing involved selectin...

C. Ytsma, A. Torralbo, N. Fitzpatrick et al. · 0 citations
Open access Sep 2026

Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.

Despite the introduction of genome sequencing (GS) for rare disease diagnostics, a genetic cause is not identified in most patients. Here, we explored the potential of proteomics to improve the diagnostic yield in 424 patients with rare diseases from the 100,000 Genomes Project (100kGP) without a genetic diagnosis. Ser...

J. Carrasco-Zanini, J. Andrade, M. Pietzner et al. · 0 citations
#protein folding Open access Sep 2026

A comprehensive proteomic and transcriptomic mapping study found porcine and human kidneys exhibit a profoundly altered biological profile during warm ex vivo perfusion.

The molecular profile of donor kidneys is extensively remodeled during NMP, creating an ex vivo state that diverges considerably from in vivo physiology, challenging the use of in vivo biomarkers for ex vivo assessment.

V. Lantinga, Y. Zuo, C. Jaynes et al. · 0 citations
Open access Jul 2026

Genetic decoding reveals druggable biology implicitly learned by a medical-history foundation model

It is shown that human genetics provides an orthogonal layer to surface implicitly learned biological concepts and otherwise hidden risk factors to train the next generation of EHR-based foundation models that likely benefit most from the addition of targeted biomarkers to advance personalised medicine.

M. Pietzner, W. Zeng, L. Kohleick et al. · 0 citations
Open access Jul 2026

Massively parallel characterization and predictive modelling of neuronal regulatory variation

A large-scale lentiMPRA in human excitatory neurons is performed, quantifying the impact of >46,000 naturally occurring variants across >27,000 candidate CREs near 524 disease-associated genes, establishing a large-scale functional variant catalog and providing a complementary benchmark and resource for developing and...

Kilian Salomon, Chengyu Deng, P. Dash et al. · 0 citations
Open access Jul 2026

Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk

It is demonstrated how untargeted nanoparticle-enriched mass spectrometry (MS)-based plasma proteomics delivers quantitatively and qualitatively different insights compared to two affinity-based assays in a sample of ~1,400 British South Asian individuals.

M. Pietzner, A. Williamson, K. Hunt et al. · 2 citations

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