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Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE. Lennon NJ, et al. Among authors: wang z. Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19. Nat Med. 2024. PMID: 38374346 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood.
Kurniansyah N, Goodman MO, Kelly TN, Elfassy T, Wiggins KL, Bis JC, Guo X, Palmas W, Taylor KD, Lin HJ, Haessler J, Gao Y, Shimbo D, Smith JA, Yu B, Feofanova EV, Smit RAJ, Wang Z, Hwang SJ, Liu S, Wassertheil-Smoller S, Manson JE, Lloyd-Jones DM, Rich SS, Loos RJF, Redline S, Correa A, Kooperberg C, Fornage M, Kaplan RC, Psaty BM, Rotter JI, Arnett DK, Morrison AC, Franceschini N, Levy D; NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium; Sofer T. Kurniansyah N, et al. Among authors: wang z. Nat Commun. 2022 Jun 21;13(1):3549. doi: 10.1038/s41467-022-31080-2. Nat Commun. 2022. PMID: 35729114 Free PMC article.
Whole genome sequence analysis of blood lipid levels in >66,000 individuals.
Selvaraj MS, Li X, Li Z, Pampana A, Zhang DY, Park J, Aslibekyan S, Bis JC, Brody JA, Cade BE, Chuang LM, Chung RH, Curran JE, de Las Fuentes L, de Vries PS, Duggirala R, Freedman BI, Graff M, Guo X, Heard-Costa N, Hidalgo B, Hwu CM, Irvin MR, Kelly TN, Kral BG, Lange L, Li X, Lisa M, Lubitz SA, Manichaikul AW, Michael P, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Reupena MS, Smith JA, Sun X, Taylor KD, Tracy RP, Tsai MY, Wang Z, Wang Y, Bao W, Wilkins JT, Yanek LR, Zhao W, Arnett DK, Blangero J, Boerwinkle E, Bowden DW, Chen YI, Correa A, Cupples LA, Dutcher SK, Ellinor PT, Fornage M, Gabriel S, Germer S, Gibbs R, He J, Kaplan RC, Kardia SLR, Kim R, Kooperberg C, Loos RJF, Viaud-Martinez KA, Mathias RA, McGarvey ST, Mitchell BD, Nickerson D, North KE, Psaty BM, Redline S, Reiner AP, Vasan RS, Rich SS, Willer C, Rotter JI, Rader DJ, Lin X; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Peloso GM, Natarajan P. Selvaraj MS, et al. Among authors: wang z, wang y. Nat Commun. 2022 Oct 11;13(1):5995. doi: 10.1038/s41467-022-33510-7. Nat Commun. 2022. PMID: 36220816 Free PMC article.
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A,… See abstract for full author list ➔ Kanoni S, et al. Among authors: wang ca, wang yx, wang z, wang y, wang c, wang js. Genome Biol. 2022 Dec 27;23(1):268. doi: 10.1186/s13059-022-02837-1. Genome Biol. 2022. PMID: 36575460 Free PMC article.
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: wang z. medRxiv [Preprint]. 2023 Jun 5:2023.05.25.23290535. doi: 10.1101/2023.05.25.23290535. medRxiv. 2023. PMID: 37333246 Free PMC article. Updated. Preprint.
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study.
Wang Y, Selvaraj MS, Li X, Li Z, Holdcraft JA, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Cade BE, Carlson JC, Carson AP, Chen YI, Curran JE, de Vries PS, Dutcher SK, Ellinor PT, Floyd JS, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, Guo X, He J, Heard-Costa N, Hildalgo B, Hou L, Irvin MR, Joehanes R, Kaplan RC, Kardia SL, Kelly TN, Kim R, Kooperberg C, Kral BG, Levy D, Li C, Liu C, Lloyd-Jone D, Loos RJ, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Murabito JM, Naseri T, O'Connell JR, Palmer ND, Preuss MH, Psaty BM, Raffield LM, Rao DC, Redline S, Reiner AP, Rich SS, Ruepena MS, Sheu WH, Smith JA, Smith A, Tiwari HK, Tsai MY, Viaud-Martinez KA, Wang Z, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Rotter JI, Lin X, Natarajan P, Peloso GM. Wang Y, et al. Among authors: wang z. medRxiv [Preprint]. 2023 Jun 29:2023.06.28.23291966. doi: 10.1101/2023.06.28.23291966. medRxiv. 2023. PMID: 37425772 Free PMC article. Updated. Preprint.
Ancestral diversity in lipoprotein(a) studies helps address evidence gaps.
Lee MP, Dimos SF, Raffield LM, Wang Z, Ballou AF, Downie CG, Arehart CH, Correa A, de Vries PS, Du Z, Gignoux CR, Gordon-Larsen P, Guo X, Haessler J, Howard AG, Hu Y, Kassahun H, Kent ST, Lopez JAG, Monda KL, North KE, Peters U, Preuss MH, Rich SS, Rhodes SL, Yao J, Yarosh R, Tsai MY, Rotter JI, Kooperberg CL, Loos RJF, Ballantyne C, Avery CL, Graff M. Lee MP, et al. Among authors: wang z. Open Heart. 2023 Aug;10(2):e002382. doi: 10.1136/openhrt-2023-002382. Open Heart. 2023. PMID: 37648373 Free PMC article.
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts.
Anwar MY, Graff M, Highland HM, Smit R, Wang Z, Buchanan VL, Young KL, Kenny EE, Fernandez-Rhodes L, Liu S, Assimes T, Garcia DO, Daeeun K, Gignoux CR, Justice AE, Haiman CA, Buyske S, Peters U, Loos RJF, Kooperberg C, North KE. Anwar MY, et al. Among authors: wang z. Hum Genet. 2023 Oct;142(10):1477-1489. doi: 10.1007/s00439-023-02593-7. Epub 2023 Sep 1. Hum Genet. 2023. PMID: 37658231
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