Gene Function - United Kingdom News Beep

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

January 10, 2026

Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland Mathieu Quinodoz, Karolina Kaminska, Ana Belén Iglesias-Romero, Mukhtar…

HHealth

Proteome-wide model for human disease genetics

November 24, 2025

Statistics and reproducibility This study is based on analysis of large-scale sequencing and variant annotation datasets (UniRef58, UKBB17,…

SScience

Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes

November 19, 2025

Iyer, L. M., Abhiman, S. & Aravind, L. Natural History of Eukaryotic DNA Methylation Systems, Vol. 101 (Elsevier,…

HHealth

Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression

November 15, 2025

Study population To conduct a large GWAS of AAO-based MDD subtypes with consistent phenotypes, we identified nine cohorts…

HHealth

Epigenetically driven and early immune evasion in colorectal cancer evolution

November 6, 2025

Sample collection and sequencing Our FF–WGS samples were comprised of processed data from previous sequencing experiments of our…

HHealth

Cell-type- and locus-specific epigenetic editing of memory expression

October 30, 2025

All animals and procedures used in this study were approved by the Veterinary Office of the Federal Council…

GGenetics

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

October 22, 2025

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…

GGenetics

Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs

October 21, 2025

Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…

GGenetics

Redefining cellular reprogramming with advanced genomic technologies

October 18, 2025

Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…

GGenetics

Characterization of induced cohesin loop extrusion trajectories in living cells

October 18, 2025

Experiments performed in this study did not require ethics board approval. Cell culture HAP1 cells were cultured in…

GGenetics

Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health

October 11, 2025

Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…

GGenetics

Nucleotide dependency analysis of genomic language models detects functional elements

October 10, 2025

SpeciesLM training For SpeciesLM metazoa, we obtained metazoan genomes comprising 494 different species from the Ensembl 110 database36.…