The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores.

Autor: Page, Madeline L.¹ (AUTHOR), Vance, Elizabeth L.¹ (AUTHOR), Cloward, Matthew E.² (AUTHOR), Ringger, Ed² (AUTHOR), Dayton, Louisa² (AUTHOR), Ebbert, Mark T. W.^1,3,4 (AUTHOR), The Alzheimer's Disease Neuroimaging Initiative (AUTHOR), Principal Investigator (AUTHOR), Weiner, M. W.⁵ (AUTHOR), ATRI PI and Director of Coordinating Center Clinical Core (AUTHOR), Aisen, P.⁶ (AUTHOR), Petersen, R.⁷ (AUTHOR), Executive Committee (AUTHOR), Jack Jr, C. R.⁷ (AUTHOR), Jagust, W.⁸ (AUTHOR), Trojanowki, J. Q.⁹ (AUTHOR), Toga, A. W.⁶ (AUTHOR), Beckett, L.¹⁰ (AUTHOR), Green, R. C.¹¹ (AUTHOR), Saykin, A. J.¹² (AUTHOR)

Publikováno v: Communications Biology. 9/2/2022, Vol. 5 Issue 1, p1-15. 15p.

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Long‐read sequencing and complete telomere to telomere human reference genome provide deeper insight into human brain transcriptomics.

Autor: Heberle, Bernardo Aguzzoli, Brandon, Jason A, Nations, Kayla, Page, Madeline L, Wadsworth, Mark E, Dickson, Dennis W., Miller, Justin B, Fryer, John D., Ebbert, Mark T.W.

Publikováno v: Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Dec2022 Supplement 4, Vol. 18 Issue 4, p1-2, 2p

GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia.

Autor: Shade LMP; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA., Katsumata Y; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA.; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA., Abner EL; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA.; Department of Epidemiology and Environmental Health, College of Public Health, University of Kentucky, Lexington, KY, USA., Aung KZ; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA.; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA., Claas SA; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA., Qiao Q; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA.; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA., Heberle BA; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA.; Department of Neuroscience, University of Kentucky College of Medicine, Lexington, KY, USA., Brandon JA; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA.; Department of Neuroscience, University of Kentucky College of Medicine, Lexington, KY, USA., Page ML; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA.; Department of Neuroscience, University of Kentucky College of Medicine, Lexington, KY, USA., Hohman TJ; Vanderbilt Memory and Alzheimer's Center, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Mukherjee S; Department of Medicine, University of Washington, Seattle, WA, USA., Mayeux RP; Department of Neurology, Columbia University, New York City, NY, USA., Farrer LA; Department of Medicine (Biomedical Genetics), Boston University Chobanian and Avedisian School of Medicine, Boston, MA, USA.; Department of Neurology, Boston University Chobanian and Avedisian School of Medicine, Boston, MA, USA.; Department of Ophthalmology, Boston University Chobanian and Avedisian School of Medicine, Boston, MA, USA.; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.; Department of Epidemiology, School of Public Health, Boston University, Boston, MA, USA., Schellenberg GD; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Haines JL; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA., Kukull WA; National Alzheimer's Coordinating Center, Department of Epidemiology, University of Washington, Seattle, WA, USA., Nho K; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA.; Indiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, IN, USA.; Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, USA., Saykin AJ; Indiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, IN, USA.; Center for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA., Bennett DA; Department of Neurological Sciences, Rush Medical College, Chicago, IL, USA.; Rush Alzheimer's Disease Center, Rush Medical College, Chicago, IL, USA., Schneider JA; Department of Neurological Sciences, Rush Medical College, Chicago, IL, USA.; Rush Alzheimer's Disease Center, Rush Medical College, Chicago, IL, USA.; Department of Pathology, Rush Medical College, Chicago, IL, USA., Ebbert MTW; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA.; Department of Neuroscience, University of Kentucky College of Medicine, Lexington, KY, USA.; Division of Biomedical Informatics, Department of Internal Medicine, University of Kentucky College of Medicine, Lexington, KY, USA., Nelson PT; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA.; Department of Pathology and Laboratory Medicine, University of Kentucky College of Medicine, Lexington, KY, USA., Fardo DW; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA. david.fardo@uky.edu.; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA. david.fardo@uky.edu.

Publikováno v: Nature genetics [Nat Genet] 2024 Oct 08. Date of Electronic Publication: 2024 Oct 08.

Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversity.

Autor: Heberle BA; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY.; Department of Neuroscience, College of Medicine, University of Kentucky, Lexington, KY., Brandon JA; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY., Page ML; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY., Nations KA; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY., Dikobe KI; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY., White BJ; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY., Gordon LA; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY., Fox GA; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY.; Department of Neuroscience, College of Medicine, University of Kentucky, Lexington, KY., Wadsworth ME; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY., Doyle PH; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY.; Department of Neuroscience, College of Medicine, University of Kentucky, Lexington, KY., Williams BA; Department of Pharmacology and Nutritional Sciences, College of Medicine, University of Kentucky, Lexington, KY., Fox EJ; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA., Shantaraman A; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA., Ryten M; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK., Goodwin S; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, United States., Ghiban E; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, United States., Wappel R; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, United States., Mavruk-Eskipehlivan S; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, United States., Miller JB; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY.; Division of Biomedical Informatics, Internal Medicine, College of Medicine, University of Kentucky, Lexington, KY.; Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, USA.; Microbiology, Immunology and Molecular Genetics, College of Medicine, University of Kentucky, Lexington, KY, USA., Seyfried NT; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA., Nelson PT; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY., Fryer JD; Department of Neuroscience, Mayo Clinic, Scottsdale, Arizona., Ebbert MTW; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY.; Department of Neuroscience, College of Medicine, University of Kentucky, Lexington, KY.; Division of Biomedical Informatics, Internal Medicine, College of Medicine, University of Kentucky, Lexington, KY.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Dec 11. Date of Electronic Publication: 2023 Dec 11.