Harnessing artificial intelligence to advance CRISPR-based genome editing technologies
Zheng, Y. et al. Precise genome-editing in human diseases: mechanisms, strategies and applications. Signal. Transduct. Target. Ther. 9,…
Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study | Orphanet Journal of Rare Diseases
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–85. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis…
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…
Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs
Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…
AI Human Genetics Platform Mystra Debuts for Drug Discovery, Validation
Officially unveiled at the American Society of Human Genetics (ASHG) 2025 meeting held in Boston, Genomics has launched…
Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes
Overview of the genotyping method We represent variation as haplotype segments that are short enough to minimize disruption…
Redefining cellular reprogramming with advanced genomic technologies
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…
Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers
Genetic ancestry is a quantitative measure of inherited genetic variation and correlates with human migration patterns1. It contributes…
SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology
Model residuals of linear regression and logistic regression Linear regression and logistic regression are regular models to fit…
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases
O’Donnell AE. Bronchiectasis – a clinical review. N Engl J Med. 2022;387(6):533–45. Article PubMed Google Scholar Flume PA,…
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…