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…
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…
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…
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…
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Cancer is a genetic disease stemming from a combination of inherited and acquired mutations. Much of our understanding…
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.…
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.…
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…