Výsledky vyhledávání - "Polymorphism, Single Nucleotide genetics"
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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
ISSN: 1061-4036, 1546-1718, 1546-1718Vydáno: New York Nature Publishing Group US 01.09.2021Vydáno v Nature genetics (01.09.2021)“…Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene…”
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Mapping genomic loci implicates genes and synaptic biology in schizophrenia
ISSN: 0028-0836, 1476-4687, 1476-4687Vydáno: London Nature Publishing Group UK 21.04.2022Vydáno v Nature (London) (21.04.2022)“…Schizophrenia has a heritability of 60–80% 1 , much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up…”
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The Polygenic and Monogenic Basis of Blood Traits and Diseases
ISSN: 1097-4172, 1097-4172Vydáno: United States 03.09.2020Vydáno v Cell (03.09.2020)“…Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed…”
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
ISSN: 1061-4036, 1546-1718, 1546-1718Vydáno: New York Nature Publishing Group US 01.05.2022Vydáno v Nature genetics (01.05.2022)“…We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055…”
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Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information
ISSN: 0006-3223, 1873-2402, 1873-2402Vydáno: United States Elsevier Inc 01.04.2022Vydáno v Biological psychiatry (1969) (01.04.2022)“…Posttraumatic stress disorder (PTSD) is heritable and a potential consequence of exposure to traumatic stress. Evidence suggests that a quantitative approach…”
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The power of genetic diversity in genome-wide association studies of lipids
ISSN: 0028-0836, 1476-4687, 1476-4687Vydáno: London Nature Publishing Group UK 23.12.2021Vydáno v Nature (London) (23.12.2021)“…Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and…”
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Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries
ISSN: 1061-4036, 1546-1718, 1546-1718Vydáno: New York Nature Publishing Group US 01.05.2023Vydáno v Nature genetics (01.05.2023)“…Inflammatory bowel diseases (IBDs) are chronic disorders of the gastrointestinal tract with the following two subtypes: Crohn’s disease (CD) and ulcerative…”
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New genetic loci link adipose and insulin biology to body fat distribution
ISSN: 0028-0836, 1476-4687, 1476-4687Vydáno: London Nature Publishing Group UK 12.02.2015Vydáno v Nature (London) (12.02.2015)“…Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our…”
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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, 1546-1718Vydáno: New York Nature Publishing Group US 01.12.2020Vydáno 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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Genetic studies of body mass index yield new insights for obesity biology
ISSN: 0028-0836, 1476-4687, 1476-4687Vydáno: London Nature Publishing Group UK 12.02.2015Vydáno v Nature (London) (12.02.2015)“…Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and…”
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Evolutionary history of human colitis-associated colorectal cancer
ISSN: 0017-5749, 1468-3288, 1468-3288Vydáno: England BMJ Publishing Group LTD 01.06.2019Vydáno v Gut (01.06.2019)“…ObjectiveIBD confers an increased lifetime risk of developing colorectal cancer (CRC), and colitis-associated CRC (CA-CRC) is molecularly distinct from…”
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webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study
ISSN: 0305-1048, 1362-4962, 1362-4962Vydáno: England Oxford University Press 07.01.2022Vydáno v Nucleic acids research (07.01.2022)“…Abstract The development of transcriptome-wide association studies (TWAS) has enabled researchers to better identify and interpret causal genes in many…”
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Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
ISSN: 1097-4172, 1097-4172Vydáno: United States 03.09.2020Vydáno v Cell (03.09.2020)“…Most loci identified by GWASs have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological traits in 746,667…”
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The Missing Diversity in Human Genetic Studies
ISSN: 1097-4172, 1097-4172Vydáno: United States 21.03.2019Vydáno v Cell (21.03.2019)“…The majority of studies of genetic association with disease have been performed in Europeans. This European bias has important implications for risk prediction…”
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Evaluating the potential role of pleiotropy in Mendelian randomization studies
ISSN: 0964-6906, 1460-2083, 1460-2083Vydáno: England Oxford University Press 01.08.2018Vydáno v Human molecular genetics (01.08.2018)“…Abstract Pleiotropy, the phenomenon of a single genetic variant influencing multiple traits, is likely widespread in the human genome. If pleiotropy arises…”
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Identification of common variants associated with human hippocampal and intracranial volumes
ISSN: 1061-4036, 1546-1718, 1546-1718Vydáno: New York Nature Publishing Group US 01.05.2012Vydáno v Nature genetics (01.05.2012)“…Paul Thompson and colleagues report a genome-wide association study for hippocampal, intracranial and total brain volume. They identify a locus at 12q24…”
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Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
ISSN: 0964-6906, 1460-2083, 1460-2083Vydáno: England Oxford University Press 01.01.2019Vydáno v Human molecular genetics (01.01.2019)“…Abstract More than one in three adults worldwide is either overweight or obese. Epidemiological studies indicate that the location and distribution of excess…”
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Potential drug targets for multiple sclerosis identified through Mendelian randomization analysis
ISSN: 0006-8950, 1460-2156, 1460-2156Vydáno: US Oxford University Press 01.08.2023Vydáno v Brain (London, England : 1878) (01.08.2023)“…Abstract Multiple sclerosis is a complex autoimmune disease, and several therapies for multiple sclerosis have been developed and widely used. However,…”
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Leveraging Polygenic Functional Enrichment to Improve GWAS Power
ISSN: 1537-6605, 1537-6605Vydáno: United States 03.01.2019Vydáno v American journal of human genetics (03.01.2019)“…Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a…”
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Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances
ISSN: 2050-084X, 2050-084XVydáno: England eLife Sciences Publications Ltd 15.01.2019Vydáno v eLife (15.01.2019)“…We use a genome-wide association of 1 million parental lifespans of genotyped subjects and data on mortality risk factors to validate previously unreplicated…”
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