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
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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
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Non-CG DNA methylation in animal genomes
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Genetic variants affecting RNA stability influence complex traits and disease risk
Ethics This research study did not require approval from any specific ethics board/committee. CNV removal We obtained absolute…
Unravelling the genetics and epigenetics of the ageing tumour microenvironment in cancer
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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.…
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
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…
A multi-tissue single-cell expression atlas in cattle
The scope of CattleCA After removing low-quality cells and doublets (Methods, Supplementary Fig. 1 and Supplementary Tables 1…
DNA methylation influences human centromere positioning and function
This study complied with all relevant local ethical regulations. Approval for the use of ICF patients’ fibroblasts was…
Closing the gap in HCV care: strategic collaboration between industry, academic, community, and nonprofit researchers
Simplified care cascades with easier treatment access are needed to ensure optimal treatment uptake with minimal patient loss…