Sökning: WFRF:(Gu J) > (2020-2024) > A multi-layer funct...
Fältnamn | Indikatorer | Metadata |
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000 | 25380naa a2207261 4500 | |
001 | oai:gup.ub.gu.se/318991 | |
003 | SwePub | |
008 | 240528s2022 | |||||||||||000 ||eng| | |
009 | oai:DiVA.org:uu-485348 | |
009 | oai:lup.lub.lu.se:18eea727-15e8-44ae-8089-2f683de2fa23 | |
009 | oai:prod.swepub.kib.ki.se:150690307 | |
024 | 7 | a https://gup.ub.gu.se/publication/3189912 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2022.06.0122 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4853482 URI |
024 | 7 | a https://lup.lub.lu.se/record/18eea727-15e8-44ae-8089-2f683de2fa232 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1506903072 URI |
040 | a (SwePub)gud (SwePub)uud (SwePub)lud (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Ramdas, S.u Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA,University of Pennsylvania4 aut |
245 | 1 0 | a A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids |
264 | 1 | b Elsevier BV,c 2022 |
500 | a For complete list of authors see http://dx.doi.org/10.1016/j.ajhg.2022.06.012De fem första författarna delar förstaförfattarskapet. | |
520 | a A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology. | |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a integrative analysis | |
653 | a wide association | |
653 | a 3d genome | |
653 | a variants | |
653 | a cholesterol | |
653 | a annotation | |
653 | a obesity | |
653 | a common | |
653 | a loci | |
653 | a expression | |
653 | a Genetics & Heredity | |
653 | a complex traits | |
653 | a fine-mapping | |
653 | a functional genomics | |
653 | a lipid biology | |
653 | a post-GWAS | |
653 | a regulatory mechanism | |
653 | a variant prioritization | |
653 | a lipid | |
653 | a chromatin | |
653 | a genetics | |
653 | a genome-wide association study | |
653 | a genomics | |
653 | a human | |
653 | a single nucleotide polymorphism | |
653 | a Chromatin | |
653 | a Genome-Wide Association Study | |
653 | a Genomics | |
653 | a Humans | |
653 | a Lipids | |
653 | a Polymorphism, Single Nucleotide | |
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710 | 2 | a Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USAb University of Pennsylvania4 org |
710 | 2 | a The Million Veteran Program |
710 | 2 | a Global Lipids Genetics Consortium |
773 | 0 | t American Journal of Human Geneticsd : Elsevier BVg 109:8, s. 1366-1387q 109:8<1366-1387x 0002-9297x 1537-6605 |
856 | 4 | u http://dx.doi.org/10.1016/j.ajhg.2022.06.012y FULLTEXT |
856 | 4 8 | u https://gup.ub.gu.se/publication/318991 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2022.06.012 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-485348 |
856 | 4 8 | u https://lup.lub.lu.se/record/18eea727-15e8-44ae-8089-2f683de2fa23 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:150690307 |
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