Search Results - "Heath, Simon C."
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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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3
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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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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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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Genetic Variation at the 22q11 PRODH2/DGCR6 Locus Presents an Unusual Pattern and Increases Susceptibility to Schizophrenia
Published in Proceedings of the National Academy of Sciences - PNAS (19-03-2002)“…The location of a schizophrenia susceptibility locus at chromosome 22q11 has been suggested by genome-wide linkage studies. Additional support was provided by…”
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Genetic Variation in the 22q11 Locus and Susceptibility to schizophrenia
Published in Proceedings of the National Academy of Sciences - PNAS (24-12-2002)“…An increased prevalence of microdeletions at the 22q11 locus has been reported in samples of patients with schizophrenia. 22q11 microdeletions represent the…”
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Linkage Analysis of Quantitative Traits for Obesity, Diabetes, Hypertension, and Dyslipidemia on the Island of Kosrae, Federated States of Micronesia
Published in Proceedings of the National Academy of Sciences - PNAS (07-03-2006)“…Obesity, diabetes, hypertension, and heart disease are highly heritable conditions that in aggregate are the major causes of morbidity and mortality in the…”
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Exhaustive Genotyping of the CEM15 (APOBEC3G) Gene and Absence of Association with AIDS Progression in a French Cohort
Published in The Journal of infectious diseases (15-01-2005)“…CEM15 (or APOBEC3G) has recently been identified as an inhibitor of human immunodeficiency virus type 1 (HIV-1) replication in vitro. To evaluate the impact of…”
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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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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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Genetic Background Determines the Extent of Atherosclerosis in ApoE-Deficient Mice
Published in Arteriosclerosis, thrombosis, and vascular biology (01-08-1999)“…Two strains of ApoE-deficient mice were found to have markedly different plasma lipoprotein profiles and susceptibility to atherosclerosis when fed either a…”
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Saturation analysis for whole-genome bisulfite sequencing data
Published in Nature biotechnology (01-07-2016)Get full text
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14
766 Comprehensive Epigenome-Wide DNA Methylation Profiling in Inflammatory Bowel Disease
Published in Gastroenterology (New York, N.Y. 1943) (01-04-2016)Get full text
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Investigation of the fine structure of European populations with applications to disease association studies
Published in European journal of human genetics : EJHG (01-12-2008)“…An investigation into fine-scale European population structure was carried out using high-density genetic variation on nearly 6000 individuals originating from…”
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A Transmission/Disequilibrium Test That Allows for Genotyping Errors in the Analysis of Single-Nucleotide Polymorphism Data
Published in American journal of human genetics (01-08-2001)“…The present study assesses the effects of genotyping errors on the type I error rate of a particular transmission/disequilibrium test (TDT std), which assumes…”
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Phenotypical characterisation of the isolated norfolk island population focusing on epidemiological indicators of cardiovascular disease
Published in Human heredity (01-01-2005)“…Only 193 people from Pitcairn Island, all descended from 9 'Bounty' mutineers and 12 Tahitian women, moved to the uninhabited Norfolk Island in 1856. Our…”
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Imperfect Genes, Fisherian Mutation and the Evolution of Sex
Published in Genetics (Austin) (01-04-1997)“…In this paper we present a mathematical model of mutation and selection that allows for the coexistence of multiple alleles at a locus with very small…”
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Epidemiology and factor analysis of obesity, type II diabetes, hypertension, and dyslipidemia (syndrome X) on the Island of Kosrae, Federated States of Micronesia
Published in Human heredity (2001)“…Obesity, type II diabetes, hypertension, and dyslipidemia are major causes of morbidity and mortality throughout the world. Though these disorders often…”
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True pedigree errors more frequent than apparent errors for single nucleotide polymorphisms
Published in Human heredity (01-01-1999)“…Single nucleotide polymorphisms (SNPs) are currently being developed for use in disequilibrium analyses. These SNPs consist of two alleles with varying degrees…”
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