Suchergebnisse - "Raffler, Johannes"
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Plasma metabolites to profile pathways in noncommunicable disease multimorbidity
ISSN: 1078-8956, 1546-170X, 1546-170XVeröffentlicht: New York Nature Publishing Group US 01.03.2021Veröffentlicht in Nature medicine (01.03.2021)“… Multimorbidity, the simultaneous presence of multiple chronic conditions, is an increasing global health problem and research into its determinants is of high …”
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SNiPA : an interactive, genetic variant-centered annotation browser
ISSN: 1367-4803, 1367-4811, 1367-4811, 1460-2059Veröffentlicht: England Oxford University Press 15.04.2015Veröffentlicht in Bioinformatics (15.04.2015)“… Motivation: Linking genes and functional information to genetic variants identified by association studies remains difficult. Resources containing extensive …”
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Genetic architecture of host proteins involved in SARS-CoV-2 infection
ISSN: 2041-1723, 2041-1723Veröffentlicht: London Nature Publishing Group UK 16.12.2020Veröffentlicht in Nature communications (16.12.2020)“… Understanding the genetic architecture of host proteins interacting with SARS-CoV-2 or mediating the maladaptive host response to COVID-19 can help to identify …”
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Mapping the proteo-genomic convergence of human diseases
ISSN: 1095-9203, 1095-9203Veröffentlicht: United States 12.11.2021Veröffentlicht in Science (American Association for the Advancement of Science) (12.11.2021)“… Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic …”
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Connecting genetic risk to disease end points through the human blood plasma proteome
ISSN: 2041-1723, 2041-1723Veröffentlicht: London Nature Publishing Group UK 27.02.2017Veröffentlicht in Nature communications (27.02.2017)“… Genome-wide association studies (GWAS) with intermediate phenotypes, like changes in metabolite and protein levels, provide functional evidence to map disease …”
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A cross-platform approach identifies genetic regulators of human metabolism and health
ISSN: 1061-4036, 1546-1718, 1546-1718Veröffentlicht: New York Nature Publishing Group US 01.01.2021Veröffentlicht in Nature genetics (01.01.2021)“… In cross-platform analyses of 174 metabolites, we identify 499 associations ( P < 4.9 × 10 −10 ) characterized by pleiotropy, allelic heterogeneity, large and …”
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Characterization of missing values in untargeted MS-based metabolomics data and evaluation of missing data handling strategies
ISSN: 1573-3882, 1573-3890, 1573-3890Veröffentlicht: New York Springer US 01.10.2018Veröffentlicht in Metabolomics (01.10.2018)“… Background Untargeted mass spectrometry (MS)-based metabolomics data often contain missing values that reduce statistical power and can introduce bias in …”
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Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans
ISSN: 1061-4036, 1546-1718, 1546-1718Veröffentlicht: New York Nature Publishing Group US 01.02.2020Veröffentlicht in Nature genetics (01.02.2020)“… The kidneys integrate information from continuous systemic processes related to the absorption, distribution, metabolism and excretion (ADME) of metabolites …”
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Human metabolic individuality in biomedical and pharmaceutical research
ISSN: 0028-0836, 1476-4687, 1476-4687Veröffentlicht: London Nature Publishing Group UK 01.09.2011Veröffentlicht in Nature (London) (01.09.2011)“… Genome-wide association studies (GWAS) have identified many risk loci for complex diseases, but effect sizes are typically small and information on the …”
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Genome-Wide Association Studies of Metabolite Concentrations (mGWAS): Relevance for Nephrology
ISSN: 1558-4488, 1558-4488Veröffentlicht: United States 01.03.2018Veröffentlicht in Seminars in nephrology (01.03.2018)“… Metabolites are small molecules that are intermediates or products of metabolism, many of which are freely filtered by the kidneys. In addition, the kidneys …”
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Artificial intelligence and digital biomarker in precision pathology guiding immune therapy selection and precision oncology
ISSN: 2573-8348, 2573-8348Veröffentlicht: United States John Wiley & Sons, Inc 01.07.2023Veröffentlicht in Cancer reports (01.07.2023)“… Background The currently available immunotherapies already changed the strategy how many cancers are treated from first to last line. Understanding even the …”
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The dynamic range of the human metabolome revealed by challenges
ISSN: 1530-6860, 1530-6860Veröffentlicht: United States 01.06.2012Veröffentlicht in The FASEB journal (01.06.2012)“… Metabolic challenge protocols, such as the oral glucose tolerance test, can uncover early alterations in metabolism preceding chronic diseases. Nevertheless, …”
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Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport
ISSN: 1537-6605, 1537-6605Veröffentlicht: United States 05.10.2017Veröffentlicht in American journal of human genetics (05.10.2017)“… Genome-wide association studies have identified a signal at the SLC22A1 locus for serum acylcarnitines, intermediate metabolites of mitochondrial oxidation …”
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Datenbasierte Funktionsvorhersage krankheitsrelevanter genetischer Varianten
ISSN: 0947-0867, 1868-6249Veröffentlicht: Berlin/Heidelberg Springer Berlin Heidelberg 01.10.2018Veröffentlicht in Biospektrum (01.10.2018)Volltext
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The HuMet Repository: Watching human metabolism at work
ISSN: 2211-1247, 2211-1247Veröffentlicht: United States Elsevier Inc 27.08.2024Veröffentlicht in Cell reports (Cambridge) (27.08.2024)“… Metabolism oscillates between catabolic and anabolic states depending on food intake, exercise, or stresses that change a multitude of metabolic pathways …”
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Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality
ISSN: 1553-7404, 1553-7390, 1553-7404Veröffentlicht: United States Public Library of Science 01.09.2015Veröffentlicht in PLoS genetics (01.09.2015)“… Genome-wide association studies with metabolic traits (mGWAS) uncovered many genetic variants that influence human metabolism. These genetically influenced …”
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A genome-wide association study of metabolic traits in human urine
ISSN: 1061-4036, 1546-1718, 1546-1718Veröffentlicht: New York Nature Publishing Group US 01.06.2011Veröffentlicht in Nature genetics (01.06.2011)“… Karsten Suhre and colleagues report a genome-wide association study of metabolic traits in human urine, using NMR spectrometry to measure 59 metabolites in …”
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Author Correction: Genetic architecture of host proteins involved in SARS-CoV-2 infection
ISSN: 2041-1723, 2041-1723Veröffentlicht: London Nature Publishing Group UK 02.02.2021Veröffentlicht in Nature communications (02.02.2021)“… A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21370-6 …”
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Bridging Data Silos in Oncology with Modular Software for Federated Analysis on Fast Healthcare Interoperability Resources: Multisite Implementation Study
ISSN: 1438-8871, 1439-4456, 1438-8871Veröffentlicht: Canada Journal of Medical Internet Research 15.04.2025Veröffentlicht in Journal of medical Internet research (15.04.2025)“… Real-world data (RWD) from sources like administrative claims, electronic health records, and cancer registries offer insights into patient populations beyond …”
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Metabomatching: Using genetic association to identify metabolites in proton NMR spectroscopy
ISSN: 1553-7358, 1553-734X, 1553-7358Veröffentlicht: United States Public Library of Science 01.12.2017Veröffentlicht in PLoS computational biology (01.12.2017)“… A metabolome-wide genome-wide association study (mGWAS) aims to discover the effects of genetic variants on metabolome phenotypes. Most mGWASes use as …”
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