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…
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…
Bioactive molecules unearthed by terabase-scale long-read sequencing of a soil metagenome
Bacterial strains and growth conditions All strains, unless otherwise specified, were grown in Luria–Bertani (LB) at 30 °C 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,…
Efficient sequence alignment against millions of prokaryotic genomes with LexicMap
Probe generation Probes, also referred to as ‘masks’ in the LexicHash paper, consist of a fixed number (m = 20,000…
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.…
Interplay of genetic predisposition, plasma metabolome and Mediterranean diet in dementia risk and cognitive function
Ethics statement This study included de-identified data from participants who had consented to the use of their anonymized…
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…