Výsledky vyhľadávania - "Smith, Albert V"
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Heterogeneity in White Blood Cells Has Potential to Confound DNA Methylation Measurements
ISSN: 1932-6203, 1932-6203Vydavateľské údaje: United States Public Library of Science 05.10.2012Vydané v PloS one (05.10.2012)“…Epigenetic studies are commonly conducted on DNA from tissue samples. However, tissues are ensembles of cells that may each have their own epigenetic profile,…”
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Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease
ISSN: 1754-2189, 1750-2799, 1750-2799Vydavateľské údaje: London Nature Publishing Group UK 01.09.2023Vydané v Nature protocols (01.09.2023)“…The human leukocyte antigen (HLA) locus is associated with more complex diseases than any other locus in the human genome. In many diseases, HLA explains more…”
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FixItFelix: improving genomic analysis by fixing reference errors
ISSN: 1474-760X, 1474-7596, 1474-760XVydavateľské údaje: London BioMed Central 21.02.2023Vydané v Genome Biology (21.02.2023)“…The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed…”
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Meta-analysis of genome-wide association data identifies two loci influencing age at menarche
ISSN: 1061-4036, 1546-1718, 1546-1718Vydavateľské údaje: New York Nature Publishing Group US 01.06.2009Vydané v Nature genetics (01.06.2009)“…André Uitterlinden and colleagues report loci at 9q31.2 and LIN28B associated with age at menarche from a meta-analysis of genome-wide association studies…”
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Association of Triglyceride-Related Genetic Variants With Mitral Annular Calcification
ISSN: 1558-3597, 1558-3597Vydavateľské údaje: United States 20.06.2017Vydané v Journal of the American College of Cardiology (20.06.2017)“…Mitral annular calcium (MAC), commonly identified by cardiac imaging, is associated with cardiovascular events and predisposes to the development of clinically…”
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A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium
ISSN: 1758-535X, 1758-535XVydavateľské údaje: United States 01.05.2010Vydané v The journals of gerontology. Series A, Biological sciences and medical sciences (01.05.2010)“…Genome-wide association studies (GWAS) may yield insights into longevity. We performed a meta-analysis of GWAS in Caucasians from four prospective cohort…”
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Association of Lipid-Related Genetic Variants with the Incidence of Atrial Fibrillation: The AFGen Consortium
ISSN: 1932-6203, 1932-6203Vydavateľské údaje: United States Public Library of Science 21.03.2016Vydané v PloS one (21.03.2016)“…Several studies have shown associations between blood lipid levels and the risk of atrial fibrillation (AF). To test the potential effect of blood lipids with…”
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GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing
ISSN: 2399-3642, 2399-3642Vydavateľské údaje: London Nature Publishing Group UK 11.08.2022Vydané v Communications biology (11.08.2022)“…Genome-wide association studies (GWAS) have made impactful discoveries for complex diseases, often by amassing very large sample sizes. Yet, GWAS of many…”
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Accounting for population structure in genetic studies of cystic fibrosis
ISSN: 2666-2477, 2666-2477Vydavateľské údaje: United States Elsevier Inc 14.07.2022Vydané v HGG advances (14.07.2022)“…CFTR F508del (c.1521_1523delCTT, p.Phe508delPhe) is the most common pathogenic allele underlying cystic fibrosis (CF), and its frequency varies in a geographic…”
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Assessing population differentiation and isolation from single-nucleotide polymorphism data
ISSN: 1369-7412, 1467-9868Vydavateľské údaje: Oxford, UK Blackwell Publishers 01.10.2002Vydané v Journal of the Royal Statistical Society. Series B, Statistical methodology (01.10.2002)“…We introduce a new, hierarchical, model for single-nucleotide polymorphism allele frequencies in a structured population, which is naturally fitted via Markov…”
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Sparse allele vectors and the savvy software suite
ISSN: 1367-4803, 1367-4811, 1367-4811Vydavateľské údaje: England Oxford University Press 18.11.2021Vydané v Bioinformatics (Oxford, England) (18.11.2021)“…Abstract Summary The sparse allele vectors file format is an efficient storage format for large-scale DNA variation data and is designed for high throughput…”
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Association of Genetic Variants with Postsurgical Pain: A Systematic Review and Meta-analyses
ISSN: 1528-1175, 1528-1175Vydavateľské údaje: United States 01.12.2023Vydané v Anesthesiology (Philadelphia) (01.12.2023)“…Postsurgical pain is a key component of surgical recovery. However, the genetic drivers of postsurgical pain remain unclear. A broad review and meta-analyses…”
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A meta-analysis of genome-wide association studies identifies multiple longevity genes
ISSN: 2041-1723, 2041-1723Vydavateľské údaje: London Nature Publishing Group UK 14.08.2019Vydané v Nature communications (14.08.2019)“…Human longevity is heritable, but genome-wide association (GWA) studies have had limited success. Here, we perform two meta-analyses of GWA studies of a…”
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
ISSN: 1061-4036, 1546-1718, 1546-1718Vydavateľské údaje: New York Nature Publishing Group US 01.12.2020Vydané v Nature genetics (01.12.2020)“…Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million…”
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Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers
ISSN: 0305-1048, 1362-4962, 1362-4962Vydavateľské údaje: England Oxford University Press 05.07.2024Vydané v Nucleic acids research (05.07.2024)“…Polygenic scores (PGS) enable the prediction of genetic predisposition for a wide range of traits and diseases by calculating the weighted sum of allele…”
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The yeast Red1 protein localizes to the cores of meiotic chromosomes
ISSN: 0021-9525Vydavateľské údaje: United States 10.03.1997Vydané v The Journal of cell biology (10.03.1997)“…Mutants in the meiosis-specific RED1 gene of S. cerevisiae fail to make any synaptonemal complex (SC) or any obvious precursors to the SC. Using antibodies…”
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Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities
ISSN: 1524-4628, 1524-4628Vydavateľské údaje: United States 01.07.2020Vydané v Stroke (1970) (01.07.2020)“…Periventricular white matter hyperintensities (WMH; PVWMH) and deep WMH (DWMH) are regional classifications of WMH and reflect proposed differences in cause…”
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TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data
ISSN: 1537-6605, 1537-6605Vydavateľské údaje: United States 02.06.2022Vydané v American journal of human genetics (02.06.2022)“…Current publicly available tools that allow rapid exploration of linkage disequilibrium (LD) between markers (e.g., HaploReg and LDlink) are based on…”
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Association of common genetic variants with brain microbleeds: A genome-wide association study
ISSN: 1526-632X, 1526-632XVydavateľské údaje: United States 15.12.2020Vydané v Neurology (15.12.2020)“…To identify common genetic variants associated with the presence of brain microbleeds (BMBs). We performed genome-wide association studies in 11…”
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Genetic Obesity and the Risk of Atrial Fibrillation: Causal Estimates from Mendelian Randomization
ISSN: 1524-4539, 1524-4539Vydavateľské údaje: United States 21.02.2017Vydané v Circulation (New York, N.Y.) (21.02.2017)“…Observational studies have identified an association between body mass index (BMI) and incident atrial fibrillation (AF). Inferring causality from…”
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