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…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Identifying the structures of autism phenotypes To best reflect the complexity of presentations across autistic individuals, we identified…
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,…
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…
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…
Systema: a framework for evaluating genetic perturbation response prediction beyond systematic variation
Nonparametric baselines We design two nonparametric baselines that we refer to as perturbed mean and matching mean. Perturbed…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Article …