Rare-variant collapsing and bioinformatic analyses for amyloidosis, dementia and Parkinson’s disease in the UK biobank reveal novel susceptibility loci
Author:
Affiliation:
1. Department of Clinical Sciences, Center for Primary Health Care Research, Lund University and Region Skåne, Malmö, Sweden
2. Department of Environmental Science and Bioscience, Kristianstad University, Kristianstad, Sweden
Funder
ALF-funding from Region Skåne
Sparbanken Skåne
Swedish Research Council
Publisher
Informa UK Limited
Subject
Internal Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/13506129.2023.2226299
Reference10 articles.
1. Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee
2. Rare variant contribution to human disease in 281,104 UK Biobank exomes
3. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
4. Identifying the amylome, proteins capable of forming amyloid-like fibrils
5. AMYPred-FRL is a novel approach for accurate prediction of amyloid proteins by using feature representation learning
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