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Page 1
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E. Lennon NJ, et al. Among authors: luo y. medRxiv [Preprint]. 2023 Jun 5:2023.05.25.23290535. doi: 10.1101/2023.05.25.23290535. medRxiv. 2023. Update in: Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z PMID: 37333246 Free PMC article. Updated. Preprint.
Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.
Pacheco JA, Rasmussen LV, Wiley K Jr, Person TN, Cronkite DJ, Sohn S, Murphy S, Gundelach JH, Gainer V, Castro VM, Liu C, Mentch F, Lingren T, Sundaresan AS, Eickelberg G, Willis V, Furmanchuk A, Patel R, Carrell DS, Deng Y, Walton N, Satterfield BA, Kullo IJ, Dikilitas O, Smith JC, Peterson JF, Shang N, Kiryluk K, Ni Y, Li Y, Nadkarni GN, Rosenthal EA, Walunas TL, Williams MS, Karlson EW, Linder JE, Luo Y, Weng C, Wei W. Pacheco JA, et al. Among authors: luo y. Sci Rep. 2023 Feb 3;13(1):1971. doi: 10.1038/s41598-023-27481-y. Sci Rep. 2023. PMID: 36737471 Free PMC article.
Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
Ferar K, Hall TO, Crawford DC, Rowley R, Satterfield BA, Li R, Gragert L, Karlson EW, de Andrade M, Kullo IJ, McCarty CA, Kho A, Hayes MG, Ritchie MD, Crane PK, Mirel DB, Carlson C, Connolly JJ, Hakonarson H, Crenshaw AT, Carrell D, Luo Y, Dikilitas O, Denny JC, Jarvik GP, Crosslin DR. Ferar K, et al. Among authors: luo y. Sci Rep. 2023 Oct 28;13(1):18532. doi: 10.1038/s41598-023-45649-4. Sci Rep. 2023. PMID: 37898691 Free PMC article.
Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
Ferar K, Hall TO, Crawford DC, Rowley R, Satterfield BA, Li R, Gragert L, Karlson EW, de Andrade M, Kullo IJ, McCarty CA, Kho A, Hayes MG, Ritchie MD, Crane PK, Mirel DB, Carlson C, Connolly JJ, Hakonarson H, Crenshaw AT, Carrell D, Luo Y, Dikilitas O, Denny JC, Jarvik GP, Crosslin DR. Ferar K, et al. Among authors: luo y. Sci Rep. 2023 Nov 15;13(1):19972. doi: 10.1038/s41598-023-47359-3. Sci Rep. 2023. PMID: 37968452 Free PMC article. No abstract available.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty MT, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube GK, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Pinheiro SVB, Oliveira EA, Simoes E Silva AC, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Gupta Y, et al. Among authors: luo y. Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9. Nat Commun. 2023. PMID: 38036523 Free PMC article.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson E, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin LJ, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei WQ, Fullerton SM. Lewis ACF, et al. Among authors: luo y. Am J Hum Genet. 2024 Jun 6;111(6):999-1005. doi: 10.1016/j.ajhg.2024.04.005. Epub 2024 Apr 29. Am J Hum Genet. 2024. PMID: 38688278 Free PMC article. Review.
Genome-wide association study of susceptibility to hospitalised respiratory infections.
Williams AT, Shrine N, Naghra-van Gijzel H, Betts JC, Chen J, Hessel EM, John C, Packer R, Reeve NF, Yeo AJ, Abner E, Åsvold BO, Auvinen J, Bartz TM, Bradford Y, Brumpton B, Campbell A, Cho MH, Chu S, Crosslin DR, Feng Q, Esko T, Gharib SA, Hayward C, Hebbring S, Hveem K, Järvelin MR, Jarvik GP, Landis SH, Larson EB, Liu J, Loos RJF, Luo Y, Moscati A, Mullerova H, Namjou B, Porteous DJ, Quint JK; Regeneron Genomics Center; Ritchie MD, Sliz E, Stanaway IB, Thomas L, Wilson JF, Hall IP, Wain LV, Michalovich D, Tobin MD. Williams AT, et al. Among authors: luo y. Wellcome Open Res. 2023 Nov 21;6:290. doi: 10.12688/wellcomeopenres.17230.2. eCollection 2021. Wellcome Open Res. 2023. PMID: 39220670 Free PMC article.
Latent class analysis of cardiac structure and function and association with premature cardiovascular disease: The Coronary Artery Risk Development in Young Adults (CARDIA) study.
Wang MC, Awoyemi T, Allen NB, Shah R, Nayor M, Luo Y, Lima JAC, Lloyd-Jones DM, Khan SS. Wang MC, et al. Among authors: luo y. Am J Prev Cardiol. 2024 Nov 15;20:100889. doi: 10.1016/j.ajpc.2024.100889. eCollection 2024 Dec. Am J Prev Cardiol. 2024. PMID: 39655179 Free PMC article.
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