Search Results - "HEATH, Simon"
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Distinct DNA methylomes of newborns and centenarians
Published in Proceedings of the National Academy of Sciences - PNAS (26-06-2012)“…Human aging cannot be fully understood in terms of the constrained genetic setting. Epigenetic drift is an alternative means of explaining age-associated…”
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Impact of DNA methylation on 3D genome structure
Published in Nature communications (28-05-2021)“…Determining the effect of DNA methylation on chromatin structure and function in higher organisms is challenging due to the extreme complexity of epigenetic…”
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Transcription Factors Drive Tet2-Mediated Enhancer Demethylation to Reprogram Cell Fate
Published in Cell stem cell (01-11-2018)“…Here, we report DNA methylation and hydroxymethylation dynamics at nucleotide resolution using C/EBPα-enhanced reprogramming of B cells into induced…”
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Selective single molecule sequencing and assembly of a human Y chromosome of African origin
Published in Nature communications (02-01-2019)“…Mammalian Y chromosomes are often neglected from genomic analysis. Due to their inherent assembly difficulties, high repeat content, and large ampliconic…”
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gemBS: high throughput processing for DNA methylation data from bisulfite sequencing
Published in Bioinformatics (01-03-2019)“…Abstract Motivation DNA methylation is essential for normal embryogenesis and development in mammals and can be captured at single base pair resolution by…”
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Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease
Published in The New England journal of medicine (24-12-2009)“…Using a novel gene chip, investigators identified single-nucleotide polymorphisms (SNPs) from three chromosomal regions, including the LPA locus, that were…”
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Comprehensive genome and epigenome characterization of CHO cells in response to evolutionary pressures and over time
Published in Biotechnology and bioengineering (01-10-2016)“…ABSTRACT The most striking characteristic of CHO cells is their adaptability, which enables efficient production of proteins as well as growth under a variety…”
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Tuning of Natural Killer Cell Reactivity by NKp46 and Helios Calibrates T Cell Responses
Published in Science (American Association for the Advancement of Science) (20-01-2012)“…Natural killer (NK) cells are lymphocytes involved in antimicrobial and antitumoral immune responses. Using N-ethyl-N-nitrosourea mutagenesis in mice, we…”
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PD-1 signaling affects cristae morphology and leads to mitochondrial dysfunction in human CD8 + T lymphocytes
Published in Journal for immunotherapy of cancer (13-06-2019)“…Binding of the programmed death-1 (PD-1) receptor to its ligands (PD-L1/2) transduces inhibitory signals that promote exhaustion of activated T cells. Blockade…”
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A Comparison of RNA-Seq Results from Paired Formalin-Fixed Paraffin-Embedded and Fresh-Frozen Glioblastoma Tissue Samples
Published in PloS one (25-01-2017)“…The molecular classification of glioblastoma (GBM) based on gene expression might better explain outcome and response to treatment than clinical factors. Whole…”
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A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
Published in Nature genetics (01-10-2007)“…F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell…”
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Transcription Factors Drive Tet2-Mediated Enhancer Demethylation to Reprogram Cell Fate
Published in Cell stem cell (06-12-2018)Get full text
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13
A note on exact differences between beta distributions in genomic (Methylation) studies
Published in PloS one (13-05-2014)“…We apply a known algorithm for computing exactly inequalities between Beta distributions to assess whether a given position in a genome is differentially…”
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14
Information recovery from low coverage whole-genome bisulfite sequencing
Published in Nature communications (27-06-2016)“…The cost of whole-genome bisulfite sequencing (WGBS) remains a bottleneck for many studies and it is therefore imperative to extract as much information as…”
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15
Genome Response to Artificial Selection: A Case Study in Dairy Cattle
Published in PloS one (12-08-2009)“…Dairy cattle breeds have been subjected over the last fifty years to intense artificial selection towards improvement of milk production traits. In this study,…”
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Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study
Published in JNCI : Journal of the National Cancer Institute (02-03-2011)“…Genome-wide association studies have identified several common genetic variants associated with breast cancer risk. It is likely, however, that a substantial…”
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Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
Published in PLoS genetics (01-04-2007)“…To identify novel susceptibility loci for Crohn disease (CD), we undertook a genome-wide association study with more than 300,000 SNPs characterized in 547…”
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Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach
Published in Blood (21-05-2009)“…Venous thromboembolism (VTE) is a complex disease that has a major genetic component of risk. To identify genetic factors that may modify the risk of VTE, we…”
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Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
Published in American journal of human genetics (01-09-2009)“…Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with…”
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Genetic factors of susceptibility and of severity in primary biliary cirrhosis
Published in Journal of hepatology (01-12-2008)“…Background/Aims In primary biliary cirrhosis (PBC), pathogenesis is influenced by genetic factors that remain poorly elucidated up to now. We investigated the…”
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