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Article
Open AccessEpigenetic scores derived in saliva are associated with gestational age at birth
Epigenetic scores (EpiScores), reflecting DNA methylation (DNAm)-based surrogates for complex traits, have been developed for multiple circulating proteins. EpiScores for pro-inflammatory proteins, such as C-r...
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Article
Open AccessIntegration of datasets for individual prediction of DNA methylation-based biomarkers
Epigenetic scores (EpiScores) can provide biomarkers of lifestyle and disease risk. Projecting new datasets onto a reference panel is challenging due to separation of technical and biological variation with ar...
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Article
Open AccessAuthor Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
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Article
Open AccessGWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown1 to be highly efficient for discovery of genetic associations2. Despite the advanced stage of ...
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Article
Development and validation of DNA methylation scores in two European cohorts augment 10-year risk prediction of type 2 diabetes
Type 2 diabetes mellitus (T2D) presents a major health and economic burden that could be alleviated with improved early prediction and intervention. While standard risk factors have shown good predictive perfo...
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Article
Open AccessRefining epigenetic prediction of chronological and biological age
Epigenetic clocks can track both chronological age (cAge) and biological age (bAge). The latter is typically defined by physiological biomarkers and risk of adverse health outcomes, including all-cause mortali...
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Article
Open AccessFeasibility and ethics of using data from the Scottish newborn blood spot archive for research
Newborn heel prick blood spots are routinely used to screen for inborn errors of metabolism and life-limiting inherited disorders. The potential value of secondary data from newborn blood spot archives merits ...
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Article
Open AccessLongitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects
Clonal hematopoiesis of indeterminate potential (CHIP) increases rapidly in prevalence beyond age 60 and has been associated with increased risk for malignancy, heart disease and ischemic stroke. CHIP is drive...
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Article
Open AccessWhole-genome sequencing reveals host factors underlying critical COVID-19
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2...
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Article
Genetic mechanisms of critical illness in COVID-19
Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with critical illness may identify mecha...
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Article
Open AccessDe novo DNA methyltransferase activity in colorectal cancer is directed towards H3K36me3 marked CpG islands
The aberrant gain of DNA methylation at CpG islands is frequently observed in colorectal tumours and may silence the expression of tumour suppressors such as MLH1. Current models propose that these CpG islands ar...
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Article
Open AccessUnlocking the transcriptomic potential of formalin-fixed paraffin embedded clinical tissues: comparison of gene expression profiling approaches
High-throughput transcriptomics has matured into a very well established and widely utilised research tool over the last two decades. Clinical datasets generated on a range of different platforms continue to b...
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Article
Open AccessIdentification of 55,000 Replicated DNA Methylation QTL
DNA methylation plays an important role in the regulation of transcription. Genetic control of DNA methylation is a potential candidate for explaining the many identified SNP associations with disease that are...
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Chapter and Conference Paper
Using Social Media to Promote STEM Education: Matching College Students with Role Models
STEM (Science, Technology, Engineering, and Mathematics) fields have become increasingly central to U.S. economic competitiveness and growth. The shortage in the STEM workforce has brought promoting STEM educa...
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Article
Open AccessDNA immunoprecipitation semiconductor sequencing (DIP-SC-seq) as a rapid method to generate genome wide epigenetic signatures
Modification of DNA resulting in 5-methylcytosine (5 mC) or 5-hydroxymethylcytosine (5hmC) has been shown to influence the local chromatin environment and affect transcription. Although recent advances in next...
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Article
Open AccessDNA methylation age of blood predicts all-cause mortality in later life
DNA methylation levels change with age. Recent studies have identified biomarkers of chronological age based on DNA methylation levels. It is not yet known whether DNA methylation age captures aspects of biolo...
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Article
Open AccessMeasurement & assessment of pain reduction six months following combined scarf akin’s osteotomies +/- 2/3 toe correction for hallux valgus
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Article
Open AccessPedigree and genoty** quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study
Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based biobank of 24,000 participants with rich phenotype and DNA available for genetic research. This paper describes the laboratory resu...
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Article
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke
Hugh Markus, Peter Donnelly and colleagues report a genome-wide association study for ischemic stroke. They identify a SNP in HDAC9, a histone deacetylase gene, that is associated with large vessel ischemic strok...
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Article
Open AccessGenomic and genetic analyses of diversity and plant interactions of Pseudomonas fluorescens
Pseudomonas fluorescens are common soil bacteria that can improve plant health through nutrient cycling, pathogen antagonism and induction of plant defenses. The genome sequences of strains SBW25 and Pf0-1 were d...
