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.· Science Translational Medici...· 0 citations
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.· medRxiv· 0 citations
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.· bioRxiv· 0 citations
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.· Nature Genetics· 2 citations
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