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74 results

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Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.
Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MS, Sun R, Dey R, Arnett DK, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Freedman BI, Göring HHH, Guo X, Haessler J, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Manichaikul A, Martin LW, McGarvey ST, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Sitlani CM, Smith JA, Taylor KD, Vasan RS, Willer CJ, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group; Rotter JI, Natarajan P, Peloso GM, Li Z, Lin X. Li X, et al. Nat Genet. 2023 Jan;55(1):154-164. doi: 10.1038/s41588-022-01225-6. Epub 2022 Dec 23. Nat Genet. 2023. PMID: 36564505 Free PMC article.
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.
Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MS, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X. Li Z, et al. Nat Methods. 2022 Dec;19(12):1599-1611. doi: 10.1038/s41592-022-01640-x. Epub 2022 Oct 27. Nat Methods. 2022. PMID: 36303018 Free PMC article.
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
International Consortium for Blood Pressure Genome-Wide Association Studies; Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Zhao JH, Aulchenko Y, Heath S, Sõber S, Parsa A, Luan J, Arora P, Dehghan A, Zhang F, Lucas G, Hicks AA, Jackson AU, Peden JF, Tanaka T, Wild SH, Rudan I, Igl W, Milaneschi Y, Parker AN, Fava C, Chambers JC, Fox ER, Kumari M, Go MJ, van der Harst P, Kao WH, Sjögren M, Vinay DG, Alexander M, Tabara Y, Shaw-Hawkins S, Whincup PH, Liu Y, Shi G, Kuusisto J, Tayo B, Seielstad M, Sim X, Nguyen KD, Lehtimäki T, Matullo G, Wu Y, Gaunt TR, Onland-Moret NC, Cooper MN, Platou CG, Org E, Hardy R, Dahgam S, Palmen J, Vitart V, Braund PS, Kuznetsova T, Uiterwaal CS, Adeyemo A, Palmas W, Campbell H, Ludwig B, Tomaszewski M, Tzoulaki I, Palmer ND; CARDIoGRAM consortium; CKDGen Consortium; KidneyGen Consortium; EchoGen consortium; CHARGE-HF consortium; Aspelund T, Garcia M, Chang YP, O'Connell JR, Steinle NI, Grobbee DE, Arking DE, Kardia SL, Morrison AC, Hernandez D, Najjar S, McArdle WL, Hadley D, Brown MJ, Connell JM, Hi… See abstract for full author list ➔ International Consortium for Blood Pressure Genome-Wide Association Studies, et al. Nature. 2011 Sep 11;478(7367):103-9. doi: 10.1038/nature10405. Nature. 2011. PMID: 21909115 Free PMC article.
The genetics of obesity and the metabolic syndrome.
Monda KL, North KE, Hunt SC, Rao DC, Province MA, Kraja AT. Monda KL, et al. Endocr Metab Immune Disord Drug Targets. 2010 Jun;10(2):86-108. doi: 10.2174/187153010791213100. Endocr Metab Immune Disord Drug Targets. 2010. PMID: 20406164 Free PMC article. Review.
A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies.
Li X, Chen H, Selvaraj MS, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen YI, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung YJ, Irvin MR, Kaplan RC, Kardia SLR, Kelly T, Konigsberg I, Kooperberg C, Kral BG, Li C, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari H, Vasan RS, Wang Z, Yanek LR, Yu B; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X. Li X, et al. bioRxiv [Preprint]. 2023 Nov 2:2023.10.30.564764. doi: 10.1101/2023.10.30.564764. bioRxiv. 2023. PMID: 37961350 Free PMC article. Preprint.
WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.
Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier K, Chittoor G, Josyula NS, Li X, Li Z, Allison MA, Becker DM, Bielak LF, Bis JC, Boorgula MP, Bowden DW, Broome JG, Buth EJ, Carlson CS, Chang KM, Chavan S, Chiu YF, Chuang LM, Conomos MP, DeMeo DL, Du M, Duggirala R, Eng C, Fohner AE, Freedman BI, Garrett ME, Guo X, Haiman C, Heavner BD, Hidalgo B, Hixson JE, Ho YL, Hobbs BD, Hu D, Hui Q, Hwu CM, Jackson RD, Jain D, Kalyani RR, Kardia SLR, Kelly TN, Lange EM, LeNoir M, Li C, Marchand LL, McDonald MN, McHugh CP, Morrison AC, Naseri T; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; O'Connell J, O'Donnell CJ, Palmer ND, Pankow JS, Perry JA, Peters U, Preuss MH, Rao DC, Regan EA, Reupena SM, Roden DM, Rodriguez-Santana J, Sitlani CM, Smith JA, Tiwari HK, Vasan RS, Wang Z, Weeks DE, Wessel J, Wiggins KL, Wilkens LR, Wilson PWF, Yanek LR, Yoneda ZT, Zhao W, Zöllner S, Arnett DK, Ashley-Koch AE, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Carson AP, Chasman DI, Chen YI, Curran JE, Fornage M, Gordeuk VR, He J, Heckbert SR, Hou L, Irvin MR, Kooperberg C, Minster RL, Mitchell BD, Nouraie M, Psaty BM, Raffield LM, Reiner AP, Rich SS, Rotter JI, Shoe… See abstract for full author list ➔ Zhang X, et al. medRxiv [Preprint]. 2023 Aug 22:2023.08.21.23293271. doi: 10.1101/2023.08.21.23293271. medRxiv. 2023. PMID: 37662265 Free PMC article. Preprint.
Genome-wide meta-analysis of SNP-by9-ACEI/ARB and SNP-by-thiazide diuretic and effect on serum potassium in cohorts of European and African ancestry.
Irvin MR, Sitlani CM, Noordam R, Avery CL, Bis JC, Floyd JS, Li J, Limdi NA, Srinivasasainagendra V, Stewart J, de Mutsert R, Mook-Kanamori DO, Lipovich L, Kleinbrink EL, Smith A, Bartz TM, Whitsel EA, Uitterlinden AG, Wiggins KL, Wilson JG, Zhi D, Stricker BH, Rotter JI, Arnett DK, Psaty BM, Lange LA. Irvin MR, et al. Pharmacogenomics J. 2019 Feb;19(1):97-108. doi: 10.1038/s41397-018-0021-9. Epub 2018 Jun 1. Pharmacogenomics J. 2019. PMID: 29855607 Free PMC article.
Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci.
Breeze CE, Batorsky A, Lee MK, Szeto MD, Xu X, McCartney DL, Jiang R, Patki A, Kramer HJ, Eales JM, Raffield L, Lange L, Lange E, Durda P, Liu Y, Tracy RP, Van Den Berg D; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed MESA Multi-Omics Working Group; Evans KL, Kraus WE, Shah S, Tiwari HK, Hou L, Whitsel EA, Jiang X, Charchar FJ, Baccarelli AA, Rich SS, Morris AP, Irvin MR, Arnett DK, Hauser ER, Rotter JI, Correa A, Hayward C, Horvath S, Marioni RE, Tomaszewski M, Beck S, Berndt SI, London SJ, Mychaleckyj JC, Franceschini N. Breeze CE, et al. Genome Med. 2021 Apr 30;13(1):74. doi: 10.1186/s13073-021-00877-z. Genome Med. 2021. PMID: 33931109 Free PMC article.
Telomeres and the natural lifespan limit in humans.
Steenstrup T, Kark JD, Verhulst S, Thinggaard M, Hjelmborg JVB, Dalgård C, Kyvik KO, Christiansen L, Mangino M, Spector TD, Petersen I, Kimura M, Benetos A, Labat C, Sinnreich R, Hwang SJ, Levy D, Hunt SC, Fitzpatrick AL, Chen W, Berenson GS, Barbieri M, Paolisso G, Gadalla SM, Savage SA, Christensen K, Yashin AI, Arbeev KG, Aviv A. Steenstrup T, et al. Aging (Albany NY). 2017 Apr;9(4):1130-1142. doi: 10.18632/aging.101216. Aging (Albany NY). 2017. PMID: 28394764 Free PMC article.
74 results