Using large-scale population-based data to improve disease risk assessment of clinical variants
Turro, E. et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583,…
Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design
Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with the research…
RNA polymerase II transcription compartments — from factories to condensates
Baum, M., Erdel, F., Wachsmuth, M. & Rippe, K. Retrieving the intracellular topology from multi-scale protein mobility mapping…
Integration of MRI radiomics and germline genetics to predict the IDH mutation status of gliomas
An overview of the study design and analysis is provided in Fig. 1. Demographic and clinical characteristics of…
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects
Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on…
Inherited mitochondrial genetics as a predictor of immune checkpoint inhibition efficacy in melanoma
MT-HGs are associated with efficacy in NIVO-treated patients In this study, we tested whether MT-HGs, as inherited genetic…
Genomics of host–microbiome interactions in humans
Valdes, A. M., Walter, J., Segal, E. & Spector, T. D. Role of the gut microbiota in nutrition…
Phylogenetic inference reveals clonal heterogeneity in circulating tumor cell clusters
Inclusion criteria and ethical considerations Between 7.5 and 15 ml of patient blood in EDTA vacutainers was collected upon…
Plasma proteome variation and its genetic determinants in children and adolescents
Discovery and replication cohorts Our discovery cohort included 2,147 children and adolescents aged 5–20 years from the HOLBAEK Study,…
Searching for the origin of human brain tumours
The anatomical location and cell type from which tumours originate has biological, diagnostic and therapeutic implications, but understanding…