Rare-variant collapsing and bioinformatic analyses for amyloidosis, dementia and Parkinson's disease in the UK biobank reveal novel susceptibility loci
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis(2023)
摘要
Click to increase image sizeClick to decrease image size AcknowledgmentsWe acknowledge the free access to the Astra Zeneca and Genebass portals that made this work possible (https://azphewas.com/ and https://app.genebass.org/) [3 Karczewski KJ, Solomonson M, Chao KR, et al. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK biobank exomes. Cell Genom. 2022;2(9):100168. doi: 10.1016/j.xgen.2022.100168.[Crossref], [PubMed] , [Google Scholar],4 Goldschmidt L, Teng PK, Riek R, et al. Identifying the amylome, proteins capable of forming amyloid-like fibrils. Proc Natl Acad Sci USA. 2010;107(8):3487–3492. doi: 10.1073/pnas.0915166107.[Crossref], [PubMed], [Web of Science ®] , [Google Scholar]].Disclosure statementNo potential conflict of interest was reported by the author(s).Additional informationFundingThis work was supported by a grant awarded to Dr. Bengt Zöller by ALF-funding from Region Skåne, Sparbanken Skåne, and by the Swedish Research Council. The funders had no role in the study.
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关键词
amyloidosis,dementia,bioinformatic analyses,parkinsons,disease,rare-variant
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