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…
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…
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…
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling
Fogg, C. et al. The dynamics of frailty development and progression in older adults in primary care in…
Synthetic lethality in cancer drug discovery: challenges and opportunities
Hartwell, L. H., Szankasi, P., Roberts, C. J., Murray, A. W. & Friend, S. H. Integrating genetic approaches…
Association between the English National Health Service Diabetes Prevention Programme and incident multiple long-term conditions
Study design and data sources The data used in this study are collected and used in line with…
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…
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.…
PEPITEM shows promise in treating osteoporosis by enhancing bone health
Researchers from the University of Birmingham, U.K., have identified bioactive peptide sequences in PEPITEM molecule, and demonstrated the…
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].…