Proteome-wide model for human disease genetics
Statistics and reproducibility This study is based on analysis of large-scale sequencing and variant annotation datasets (UniRef58, UKBB17,…
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
Hotspots of human mutation point to clonal expansions in spermatogonia
Lawson, A. R. J. et al. Somatic mutation and selection at population scale. Nature https://doi.org/10.1038/s41586-025-09584-w (2025). Maeda, H.…
Baylor Genetics to Showcase the Expanding Role and Clinical
HOUSTON, Sept. 22, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…