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2021 1
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Page 1
Principles and methods for transferring polygenic risk scores across global populations.
Kachuri L, Chatterjee N, Hirbo J, Schaid DJ, Martin I, Kullo IJ, Kenny EE, Pasaniuc B; Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Methods Working Group; Witte JS, Ge T. Kachuri L, et al. Nat Rev Genet. 2024 Jan;25(1):8-25. doi: 10.1038/s41576-023-00637-2. Epub 2023 Aug 24. Nat Rev Genet. 2024. PMID: 37620596 Free PMC article. Review.
Functional characterization of Alzheimer's disease genetic variants in microglia.
Yang X, Wen J, Yang H, Jones IR, Zhu X, Liu W, Li B, Clelland CD, Luo W, Wong MY, Ren X, Cui X, Song M, Liu H, Chen C, Eng N, Ravichandran M, Sun Y, Lee D, Van Buren E, Jiang MZ, Chan CSY, Ye CJ, Perera RM, Gan L, Li Y, Shen Y. Yang X, et al. Nat Genet. 2023 Oct;55(10):1735-1744. doi: 10.1038/s41588-023-01506-8. Epub 2023 Sep 21. Nat Genet. 2023. PMID: 37735198 Free PMC article.
The PRIMED Consortium: Reducing disparities in polygenic risk assessment.
Kullo IJ, Conomos MP, Nelson SC, Adebamowo SN, Choudhury A, Conti D, Fullerton SM, Gogarten SM, Heavner B, Hornsby WE, Kenny EE, Khan A, Khera AV, Li Y, Martin I, Mercader JM, Ng M, Raffield LM, Reiner A, Rowley R, Schaid D, Stilp A, Wiley K, Wilson R, Witte JS, Natarajan P; Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium. Kullo IJ, et al. Am J Hum Genet. 2024 Dec 5;111(12):2594-2606. doi: 10.1016/j.ajhg.2024.10.010. Epub 2024 Nov 18. Am J Hum Genet. 2024. PMID: 39561770 Free PMC article.
Differences in the Circulating Proteome in Individuals with versus without Sickle Cell Trait.
Cai Y, Franceschini N, Surapaneni A, Garrett ME, Tahir UA, Hsu L, Telen MJ, Yu B, Tang H, Li Y, Liu S, Gerszten RE, Coresh J, Manson JE, Wojcik GL, Kooperberg C, Auer PL, Foster MW, Grams ME, Ashley-Koch AE, Raffield LM, Reiner AP. Cai Y, et al. Clin J Am Soc Nephrol. 2023 Nov 1;18(11):1416-1425. doi: 10.2215/CJN.0000000000000257. Epub 2023 Aug 3. Clin J Am Soc Nephrol. 2023. PMID: 37533140 Free PMC article.
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program.
Wheeler MM, Stilp AM, Rao S, Halldórsson BV, Beyter D, Wen J, Mihkaylova AV, McHugh CP, Lane J, Jiang MZ, Raffield LM, Jun G, Sedlazeck FJ, Metcalf G, Yao Y, Bis JB, Chami N, de Vries PS, Desai P, Floyd JS, Gao Y, Kammers K, Kim W, Moon JY, Ratan A, Yanek LR, Almasy L, Becker LC, Blangero J, Cho MH, Curran JE, Fornage M, Kaplan RC, Lewis JP, Loos RJF, Mitchell BD, Morrison AC, Preuss M, Psaty BM, Rich SS, Rotter JI, Tang H, Tracy RP, Boerwinkle E, Abecasis GR, Blackwell TW, Smith AV, Johnson AD, Mathias RA, Nickerson DA, Conomos MP, Li Y, Þorsteinsdóttir U, Magnússon MK, Stefansson K, Pankratz ND, Bauer DE, Auer PL, Reiner AP. Wheeler MM, et al. Nat Commun. 2022 Dec 8;13(1):7592. doi: 10.1038/s41467-022-35354-7. Nat Commun. 2022. PMID: 36481753 Free PMC article.
Leveraging base-pair mammalian constraint to understand genetic variation and human disease.
Sullivan PF, Meadows JRS, Gazal S, Phan BN, Li X, Genereux DP, Dong MX, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas MJ, Marinescu VD, Wang C, Wallerman O, Xue J, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler A, Keough KC, Zheng Z, Zeng J, Wray NR, Li Y, Johnson J, Chen J; Zoonomia Consortium§; Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. Sullivan PF, et al. Science. 2023 Apr 28;380(6643):eabn2937. doi: 10.1126/science.abn2937. Epub 2023 Apr 28. Science. 2023. PMID: 37104612 Free PMC article.
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.
Lo Faro V, Bhattacharya A, Zhou W, Zhou D, Wang Y, Läll K, Kanai M, Lopera-Maya E, Straub P, Pawar P, Tao R, Zhong X, Namba S; Global Biobank Meta-analysis Initiative; Sanna S, Nolte IM, Okada Y, Ingold N, MacGregor S, Snieder H, Surakka I, Shortt J, Gignoux C, Rafaels N, Crooks K, Verma A, Verma SS, Guare L, Rader DJ, Willer C, Martin AR, Brantley MA Jr, Gamazon ER, Jansonius NM, Joos K, Cox NJ, Hirbo J. Lo Faro V, et al. Cell Rep Med. 2024 Feb 20;5(2):101430. doi: 10.1016/j.xcrm.2024.101430. Cell Rep Med. 2024. PMID: 38382466 Free PMC article.
MagicalRsq: Machine-learning-based genotype imputation quality calibration.
Sun Q, Yang Y, Rosen JD, Jiang MZ, Chen J, Liu W, Wen J, Raffield LM, Pace RG, Zhou YH, Wright FA, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, Knowles MR, Schrider DR, Fuchsberger C, Li Y. Sun Q, et al. Am J Hum Genet. 2022 Nov 3;109(11):1986-1997. doi: 10.1016/j.ajhg.2022.09.009. Epub 2022 Oct 4. Am J Hum Genet. 2022. PMID: 36198314 Free PMC article.
38 results