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Rare genetic coding variants associated with human longevity and protection against age-related diseases.
Lin JR, Sin-Chan P, Napolioni V, Torres GG, Mitra J, Zhang Q, Jabalameli MR, Wang Z, Nguyen N, Gao T; Regeneron Genetics Center; Laudes M, Görg S, Franke A, Nebel A, Greicius MD, Atzmon G, Ye K, Gorbunova V, Ladiges WC, Shuldiner AR, Niedernhofer LJ, Robbins PD, Milman S, Suh Y, Vijg J, Barzilai N, Zhang ZD. Lin JR, et al. Nat Aging. 2021 Sep;1(9):783-794. doi: 10.1038/s43587-021-00108-5. Epub 2021 Sep 13. Nat Aging. 2021. PMID: 37117627
Enhancer release and retargeting activates disease-susceptibility genes.
Oh S, Shao J, Mitra J, Xiong F, D'Antonio M, Wang R, Garcia-Bassets I, Ma Q, Zhu X, Lee JH, Nair SJ, Yang F, Ohgi K, Frazer KA, Zhang ZD, Li W, Rosenfeld MG. Oh S, et al. Nature. 2021 Jul;595(7869):735-740. doi: 10.1038/s41586-021-03577-1. Epub 2021 May 26. Nature. 2021. PMID: 34040254
PGA: post-GWAS analysis for disease gene identification.
Lin JR, Jaroslawicz D, Cai Y, Zhang Q, Wang Z, Zhang ZD. Lin JR, et al. Bioinformatics. 2018 May 15;34(10):1786-1788. doi: 10.1093/bioinformatics/btx845. Bioinformatics. 2018. PMID: 29300829 Free PMC article.
HEDD: Human Enhancer Disease Database.
Wang Z, Zhang Q, Zhang W, Lin JR, Cai Y, Mitra J, Zhang ZD. Wang Z, et al. Nucleic Acids Res. 2018 Jan 4;46(D1):D113-D120. doi: 10.1093/nar/gkx988. Nucleic Acids Res. 2018. PMID: 29077884 Free PMC article.