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Träfflista för sökning "WFRF:(Chang S. H.) srt2:(2020-2024)"

Search: WFRF:(Chang S. H.) > (2020-2024)

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  • Ramdas, S., et al. (author)
  • A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
  • 2022
  • In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 109:8, s. 1366-1387
  • Journal article (peer-reviewed)abstract
    • 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.
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  • Result 11-20 of 240
Type of publication
journal article (223)
research review (5)
conference paper (3)
book chapter (3)
book (1)
Type of content
peer-reviewed (208)
other academic/artistic (27)
Author/Editor
Chang-Claude, J (43)
Wang, Q. (39)
Pharoah, PDP (36)
Easton, DF (35)
Czene, K (33)
Bolla, MK (33)
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Dennis, J (32)
Hamann, U (32)
Dunning, AM (32)
Garcia-Closas, M (32)
Jakubowska, A (32)
Southey, MC (31)
Brenner, H (30)
Andrulis, IL (30)
Schmidt, MK (30)
Fasching, PA (30)
Devilee, P (30)
Zheng, W. (29)
Mannermaa, A (29)
Gago-Dominguez, M. (29)
Bojesen, SE (28)
Giles, GG (27)
Guenel, P (27)
Hall, P (26)
Milne, RL (26)
Haiman, CA (26)
Nevanlinna, H (26)
Peterlongo, P (25)
Wolk, Alicja (25)
Hopper, JL (25)
Lubinski, J (25)
Schmutzler, RK (25)
Castelao, JE (25)
Behrens, S (25)
Lindblom, A (24)
Truong, T (24)
Chanock, SJ (24)
Flyger, H (24)
Rennert, G. (24)
Radice, P (22)
Chenevix-Trench, G (22)
Bermisheva, M (22)
Mavroudis, D (22)
Hahnen, E (22)
Anton-Culver, H (21)
Wolk, A (21)
Lambrechts, D (21)
Dork, T (21)
Evans, DG (21)
Sawyer, EJ (21)
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Karolinska Institutet (149)
Lund University (51)
Uppsala University (50)
Chalmers University of Technology (30)
University of Gothenburg (24)
Umeå University (16)
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Royal Institute of Technology (13)
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University of Borås (5)
Örebro University (4)
Linköping University (4)
Swedish University of Agricultural Sciences (2)
Luleå University of Technology (1)
IVL Swedish Environmental Research Institute (1)
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Language
English (240)
Research subject (UKÄ/SCB)
Medical and Health Sciences (98)
Natural sciences (55)
Engineering and Technology (16)
Social Sciences (16)
Agricultural Sciences (2)

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