Is enhancer-driven gene regulation all wrapped up?
Symmons, O. et al. The Shh topological domain facilitates the action of remote enhancers by reducing the effects…
Regulatory genome annotation | Nature Reviews Genetics
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91–100…
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany Vicente A. Yépez, Rebeka Luknárová, Felix Brechtmann, Leon Kraß, Shubhankar…
A genome-wide association analysis reveals new pathogenic pathways in gout
Kuo, C. F. et al. Global epidemiology of gout: prevalence, incidence and risk factors. Nat. Rev. Rheumatol. 11,…
Robust and accurate Bayesian inference of genome-wide genealogies for hundreds of genomes
An overview of the SINGER algorithm SINGER takes in phased WGS data and samples ARGs iteratively by adding…
Unravelling the genetics and epigenetics of the ageing tumour microenvironment in cancer
de Magalhaes, J. P. How ageing processes influence cancer. Nat. Rev. Cancer 13, 357–365 (2013). Article PubMed Google…
Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions
Ethics Our study complies with all relevant ethical regulations and was approved by the institutional review boards at…
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Enrollment rates Between 28 September 2023 and 10 June 2024 (~8.5 months), a total of 2,125 newborns were enrolled.…
Improving broad-spectrum resistance to clubroot disease with one gene
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This…
Practice of data sharing plans in clinical trial registrations and concordance between registered and published data sharing plans: a cross-sectional study | BMC Medicine
We reported this study according to the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guideline [14].…
Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis
Ethical regulations This study was conducted under approved UKB application no. 56844. Clinical samples were obtained with informed…
Mutational landscape of triple-negative breast cancer in African American women
Patient population Paired tumor and normal samples from 513 self-identified AA women with TNBC were interrogated by WES.…