Search Results - "Breeze, Charles E"
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A comparison of reference-based algorithms for correcting cell-type heterogeneity in Epigenome-Wide Association Studies
Published in BMC bioinformatics (13-02-2017)“…Intra-sample cellular heterogeneity presents numerous challenges to the identification of biomarkers in large Epigenome-Wide Association Studies (EWAS). While…”
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Identification of differentially methylated cell types in epigenome-wide association studies
Published in Nature methods (01-12-2018)“…An outstanding challenge of epigenome-wide association studies (EWASs) performed in complex tissues is the identification of the specific cell type(s)…”
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EPISCORE: cell type deconvolution of bulk tissue DNA methylomes from single-cell RNA-Seq data
Published in Genome Biology (04-09-2020)“…Cell type heterogeneity presents a challenge to the interpretation of epigenome data, compounded by the difficulty in generating reliable single-cell DNA…”
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A mammalian methylation array for profiling methylation levels at conserved sequences
Published in Nature communications (10-02-2022)“…Infinium methylation arrays are not available for the vast majority of non-human mammals. Moreover, even if species-specific arrays were available, probe…”
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African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations
Published in BMC genomics (08-05-2024)“…Apolipoprotein L1 (APOL1) coding variants, termed G1 and G2, are established genetic risk factors for a growing spectrum of diseases, including kidney disease,…”
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Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations
Published in Genome Biology (07-01-2022)“…Genome-wide association study (GWAS) single nucleotide polymorphisms (SNPs) are known to preferentially co-locate to active regulatory elements in tissues and…”
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Snoring and breathing pauses during sleep: interview survey of a United Kingdom population sample reveals a significant increase in the rates of sleep apnoea and obesity over the last 20 years - data from the UK sleep survey
Published in Sleep medicine (01-02-2019)“…(1) To determine the prevalence of snoring, breathing pauses during sleep and obstructive sleep apnoea syndrome in the United Kingdom (UK) and determine the…”
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FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases
Published in Genome Biology (02-01-2024)“…The majority of disease-associated variants identified through genome-wide association studies are located outside of protein-coding regions. Prioritizing…”
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Epigenetic reprogramming of fallopian tube fimbriae in BRCA mutation carriers defines early ovarian cancer evolution
Published in Nature communications (24-05-2016)“…The exact timing and contribution of epigenetic reprogramming to carcinogenesis are unclear. Women harbouring BRCA1/2 mutations demonstrate a 30–40-fold…”
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Diversity in EWAS: current state, challenges, and solutions
Published in Genome medicine (06-07-2022)“…Abstract Here, we report a lack of diversity in epigenome-wide association studies (EWAS) and DNA methylation (DNAm) data, discuss current challenges, and…”
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Genome-wide analysis of DNA methylation in buccal cells: a study of monozygotic twins and mQTLs
Published in Epigenetics & chromatin (25-09-2018)“…DNA methylation arrays are widely used in epigenome-wide association studies and methylation quantitative trait locus (mQTL) studies. Here, we performed the…”
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eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data
Published in Cell reports (Cambridge) (15-11-2016)“…Epigenome-wide association studies (EWAS) provide an alternative approach for studying human disease through consideration of non-genetic variants such as…”
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Gender-neutral HPV vaccination in the UK, rising male oropharyngeal cancer rates, and lack of HPV awareness
Published in The Lancet infectious diseases (01-02-2019)Get full text
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The missing diversity in human epigenomic studies
Published in Nature genetics (01-06-2022)“…Recent work has highlighted a lack of diversity in genomic studies. However, less attention has been given to epigenomics. Here, we show that epigenomic…”
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eFORGE v2.0: updated analysis of cell type-specific signal in epigenomic data
Published in Bioinformatics (01-11-2019)“…Abstract Summary The Illumina Infinium EPIC BeadChip is a new high-throughput array for DNA methylation analysis, extending the earlier 450k array by over…”
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Early detection of HPV-associated oropharyngeal cancer
Published in The Lancet (British edition) (25-05-2019)Get full text
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A pan-tissue DNA methylation atlas enables in silico decomposition of human tissue methylomes at cell-type resolution
Published in Nature methods (01-03-2022)“…Bulk-tissue DNA methylomes represent an average over many different cell types, hampering our understanding of cell-type-specific contributions to disease…”
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HGF-rs12536657 and Ocular Biometric Parameters in Hyperopic Children, Emmetropic Adolescents, and Young Adults: A Multicenter Quantitative Trait Study
Published in Journal of ophthalmology (01-01-2019)“…Introduction. Even though ocular refractive state is highly heritable and under strong genetic control, the identification of susceptibility genes remains a…”
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EpiDISH web server: Epigenetic Dissection of Intra-Sample-Heterogeneity with online GUI
Published in Bioinformatics (09-11-2019)“…Abstract Summary It is well recognized that cell-type heterogeneity hampers the interpretation of Epigenome-Wide Association Studies (EWAS). Many tools have…”
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Cell Type-Specific Signal Analysis in Epigenome-Wide Association Studies
Published in Methods in molecular biology (Clifton, N.J.) (2022)“…Hundreds of epigenome-wide association studies (EWAS) have been performed, successfully identifying replicated epigenomic signals in processes such as aging…”
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