Publications

See also Google Scholar.

2026

Phenotypes of ultra-rare variant carriers benchmark variant effect scores
S Londhe, E Holtkamp, G Tsitsiridis, A Starovoit, P Tomaz da Silva, J Hingerl, H Finucane, J Gagneur
bioRxiv (preprint)
Preprint PDF Code

2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
VA Yépez, G Demidov, K Ellwanger, S Laurie, R Luknárová, …, S Londhe, …, J Gagneur, H Graessner
Nature Genetics 57(10), 2361–2370
Paper

Aberrant splicing prediction during human organ development
N Wagner, AM Neverov, AC Martin-Geary, S Londhe, C Schröder, VA Yépez, N Whiffin, J Gagneur
bioRxiv (preprint)
Preprint PDF

2024

Functional gene embeddings improve rare variant polygenic risk scores
S Londhe, J Lindner, Z Chen, E Holtkamp, FR Hölzlwimmer, FP Casale, F Brechtmann, J Gagneur
bioRxiv (preprint)
Preprint PDF Code

2023

Evaluation of input data modality choices on functional gene embeddings
F Brechtmann, T Bechtler, S Londhe, C Mertes, J Gagneur
NAR Genomics and Bioinformatics 5(4), lqad095
Paper

A systematic benchmark of machine learning methods for protein–RNA interaction prediction
M Horlacher, G Cantini, J Hesse, P Schinke, N Goedert, S Londhe, L Moyon, A Marsico
Briefings in Bioinformatics 24(5), bbad307
Paper