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  1. Article

    Open Access

    Ribosomal DNA copy number is associated with body mass in humans and other mammals

    Body mass results from a complex interplay between genetics and environment. Previous studies of the genetic contribution to body mass have excluded repetitive regions due to the technical limitations of platf...

    Pui Pik Law, Liudmila A. Mikheeva, Francisco Rodriguez-Algarra in Nature Communications (2024)

  2. Article

    Open Access

    Author Correction: The senescent methylome and its relationship with cancer, ageing and germline genetic variation in humans

    Robert Lowe, Marita G. Overhoff, Sreeram V. Ramagopalan, James C. Garbe in Genome Biology (2024)

  3. No Access

    Article

    A stochastic basis for metabolic phenotypes

    It has long been recognized that some phenotypic variation in mammals cannot be explained by known genetic or environmental variables. Here, the authors show that the absence of Nnat expression is associated with...

    Michelle L. Holland, Vardhman K. Rakyan in Nature Metabolism (2022)

  4. Article

    Open Access

    Genetic variation at mouse and human ribosomal DNA influences associated epigenetic states

    Ribosomal DNA (rDNA) displays substantial inter-individual genetic variation in human and mouse. A systematic analysis of how this variation impacts epigenetic states and expression of the rDNA has thus far no...

    Francisco Rodriguez-Algarra, Robert A. E. Seaborne, Amy F. Danson in Genome Biology (2022)

  5. Article

    Open Access

    DNA methylation aging clocks: challenges and recommendations

    Epigenetic clocks comprise a set of CpG sites whose DNA methylation levels measure subject age. These clocks are acknowledged as a highly accurate molecular correlate of chronological age in humans and other v...

    Christopher G. Bell, Robert Lowe, Peter D. Adams, Andrea A. Baccarelli in Genome Biology (2019)

  6. Article

    Open Access

    Early life diet conditions the molecular response to post-weaning protein restriction in the mouse

    Environmental influences fluctuate throughout the life course of an organism. It is therefore important to understand how the timing of exposure impacts molecular responses. Herein, we examine the responses of...

    Amy F. Danson, Sarah J. Marzi, Robert Lowe, Michelle L. Holland in BMC Biology (2018)

  7. Article

    Open Access

    Ageing-associated DNA methylation dynamics are a molecular readout of lifespan variation among mammalian species

    Mammalian species exhibit a wide range of lifespans. To date, a robust and dynamic molecular readout of these lifespan differences has not yet been identified. Recent studies have established the existence of ...

    Robert Lowe, Carl Barton, Christopher A. Jenkins, Christina Ernst in Genome Biology (2018)

  8. Article

    Open Access

    Increased DNA methylation variability in type 1 diabetes across three immune effector cell types

    The incidence of type 1 diabetes (T1D) has substantially increased over the past decade, suggesting a role for non-genetic factors such as epigenetic mechanisms in disease development. Here we present an epige...

    Dirk S. Paul, Andrew E. Teschendorff, Mary A.N. Dang, Robert Lowe in Nature Communications (2016)

  9. Article

    Open Access

    Correlation of an epigenetic mitotic clock with cancer risk

    Variation in cancer risk among somatic tissues has been attributed to variations in the underlying rate of stem cell division. For a given tissue type, variable cancer risk between individuals is thought to be...

    Zhen Yang, Andrew Wong, Diana Kuh, Dirk S. Paul, Vardhman K. Rakyan in Genome Biology (2016)

  10. Article

    Open Access

    A donor-specific epigenetic classifier for acute graft-versus-host disease severity in hematopoietic stem cell transplantation

    Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for many hematological conditions. Acute graft-versus-host disease (aGVHD) is a prevalent immune-mediated complication followin...

    Dirk S. Paul, Allison Jones, Rob S. Sellar, Neema P. Mayor, Andrew Feber in Genome Medicine (2015)

  11. Article

    Open Access

    The senescent methylome and its relationship with cancer, ageing and germline genetic variation in humans

    Cellular senescence is a stable arrest of proliferation and is considered a key component of processes associated with carcinogenesis and other ageing-related phenotypes. Here, we perform methylome analysis of...

    Robert Lowe, Marita G. Overhoff, Sreeram V. Ramagopalan, James C. Garbe in Genome Biology (2015)

  12. Article

    Open Access

    Sexually dimorphic gene expression emerges with embryonic genome activation and is dynamic throughout development

    As sex determines mammalian development, understanding the nature and developmental dynamics of the sexually dimorphic transcriptome is important. To explore this, we generated 76 genome-wide RNA-seq profiles ...

    Robert Lowe, Carolina Gemma, Vardhman K Rakyan, Michelle L Holland in BMC Genomics (2015)

  13. Article

    Open Access

    Correcting for cell-type composition bias in epigenome-wide association studies

    Recent epigenome-wide association studies have indicated a potential role for epigenetic variation in the etiology of complex human diseases. However, one major challenge is to distinguish true epigenetic vari...

    Robert Lowe, Vardhman K Rakyan in Genome Medicine (2014)

  14. Article

    Open Access

    Marmal-aid - a database for Infinium HumanMethylation450

    DNA methylation is indispensible for normal human genome function. Currently there is an increasingly large number of DNA methylomic data being released in the public domain allowing for an opportunity to inve...

    Robert Lowe, Vardhman K Rakyan in BMC Bioinformatics (2013)

  15. Article

    Open Access

    Inactive or moderately active human promoters are enriched for inter-individual epialleles

    Inter-individual epigenetic variation, due to genetic, environmental or random influences, is observed in many eukaryotic species. In mammals, however, the molecular nature of epiallelic variation has been poo...

    Carolina Gemma, Sreeram V Ramagopalan, Thomas A Down, Huriya Beyan in Genome Biology (2013)

  16. No Access

    Article

    Epigenome-wide association studies for common human diseases

  17. Epigenetic variation affects genome function and hence can contribute to common disease. To establish a possible link requires systematic studies, such as the ...

  18. Vardhman K. Rakyan, Thomas A. Down, David J. Balding in Nature Reviews Genetics (2011)

  19. Article

    Open Access

    Genome-wide DNA methylation analysis for diabetic nephropathy in type 1 diabetes mellitus

    Diabetic nephropathy is a serious complication of diabetes mellitus and is associated with considerable morbidity and high mortality. There is increasing evidence to suggest that dysregulation of the epigenome...

    Christopher G Bell, Andrew E Teschendorff, Vardhman K Rakyan in BMC Medical Genomics (2010)

  20. No Access

    Article

    A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis

    An inability to estimate absolute DNA methylation levels has slowed progress in understanding the role of this epigenetic modification in health and disease. Down et al. describe an algorithm for analyzing methyl...

    Thomas A Down, Vardhman K Rakyan, Daniel J Turner, Paul Flicek in Nature Biotechnology (2008)

  21. Article

    Open Access

    Generation of a genomic tiling array of the human Major Histocompatibility Complex (MHC) and its application for DNA methylation analysis

    The major histocompatibility complex (MHC) is essential for human immunity and is highly associated with common diseases, including cancer. While the genetics of the MHC has been studied intensively for many d...

    Eleni M Tomazou, Vardhman K Rakyan, Gregory Lefebvre in BMC Medical Genomics (2008)

  22. No Access

    Article

    DNA methylation profiling of human chromosomes 6, 20 and 22

    DNA methylation is the most stable type of epigenetic modification modulating the transcriptional plasticity of mammalian genomes. Using bisulfite DNA sequencing, we report high-resolution methylation profiles...

    Florian Eckhardt, Joern Lewin, Rene Cortese, Vardhman K Rakyan in Nature Genetics (2006)