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…
Integrating Proteomics with Global Genetic Meta-Analysis
Ankylosing Spondylitis (AS) is a debilitating, immune-mediated disease which causes inflammation of the joints between the vertebrae, leading…
Polygenic and developmental profiles of autism differ by age at diagnosis
Department of Psychiatry, University of Cambridge, Cambridge, UK Xinhe Zhang, Yuanjun Gu, Sharon A. S. Neufeld, Simon Baron-Cohen & Varun Warrier Autism Research…
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…
A genetic map of human metabolism across the allele frequency spectrum
Study design The UKB is a prospective cohort study from the UK that contains more than 500,000 volunteers…
Advances in haplotype phasing and genotype imputation
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
Genetic architecture of plasma metabolome in 254,825 individuals
Population characteristics We included 254,825 UKB participants with both metabolomic and genomic data available after quality control. The…
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Abul-Husn, N. S. & Kenny, E. E. Personalized medicine and the power of electronic health records. Cell 177,…
African American ancestry study identifies new lung cancer risk factors
Cancer Despite having lower smoking habits than other groups in the U.S., Black Americans are more likely to…
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…
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes
Uffelmann, E. et al. Genome-wide association studies. Nat. Rev. Methods Prim. 1, 59 (2021). CAS Google Scholar Visscher,…
Whole-genome sequencing of 490,640 UK Biobank participants
We integrated deep phenotyping data27 available for most UKB participants and performed genetic association analysis across selected disease…