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Article

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

Science translational medicine - 9 Sept 2026

Carrasco-Zanini Julia, Andrade Jorge, Pietzner Maik, Kousathanas Athanasios, Jacobsen Julius O B, Lord Jenny, Telugu Narasimha, Diecke Sebastian, Mülleder Michael, Bierbaum Dominik, Vestito Letizia, Robinson Peter N, Ralser Markus, Baralle Diana, Wareham Nicholas J, Elgar Greg, Potente Michael, Brown Matthew A, Caulfield Mark, Smedley Damian, Langenberg Claudia

Abstract excerpt

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. Serum proteomic profiling was performed using the Olink Explore 1536 assay (N = 1463 proteins). For...

Read the complete abstract on PubMed

Topics

Humans
Proteomics
Rare Diseases
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Whole Genome Sequencing

Female

Male

Genome, Human

Source

Identifiers

PMID: 42715344
DOI: 10.1126/scitranslmed.aeb1331

Genes

TIE1

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