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Page 1
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. Am J Hum Genet. 2023 Oct 5;110(10):1704-1717. doi: 10.1016/j.ajhg.2023.09.003. Am J Hum Genet. 2023. PMID: 37802043 Free PMC article.
Genome sequencing unveils a regulatory landscape of platelet reactivity.
Keramati AR, Chen MH, Rodriguez BAT, Yanek LR, Bhan A, Gaynor BJ, Ryan K, Brody JA, Zhong X, Wei Q; NHLBI Trans-Omics for Precision (TOPMed) Consortium; Kammers K, Kanchan K, Iyer K, Kowalski MH, Pitsillides AN, Cupples LA, Li B, Schlaeger TM, Shuldiner AR, O'Connell JR, Ruczinski I, Mitchell BD, Faraday N, Taub MA, Becker LC, Lewis JP, Mathias RA, Johnson AD. Keramati AR, et al. Nat Commun. 2021 Jun 15;12(1):3626. doi: 10.1038/s41467-021-23470-9. Nat Commun. 2021. PMID: 34131117 Free PMC article.
Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.
Montasser ME, Van Hout CV, Miloscio L, Howard AD, Rosenberg A, Callaway M, Shen B, Li N, Locke AE, Verweij N, De T, Ferreira MA, Lotta LA, Baras A, Daly TJ, Hartford SA, Lin W, Mao Y, Ye B, White D, Gong G, Perry JA, Ryan KA, Fang Q, Tzoneva G, Pefanis E, Hunt C, Tang Y, Lee L; Regeneron Genetics Center Collaboration‡; Sztalryd-Woodle C, Mitchell BD, Healy M, Streeten EA, Taylor SI, O'Connell JR, Economides AN, Della Gatta G, Shuldiner AR. Montasser ME, et al. Science. 2021 Dec 3;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 2. Science. 2021. PMID: 34855475
Rare variant contribution to the heritability of coronary artery disease.
Rocheleau G, Clarke SL, Auguste G, Hasbani NR, Morrison AC, Heath AS, Bielak LF, Iyer KR, Young EP, Stitziel NO, Jun G, Laurie C, Broome JG, Khan AT, Arnett DK, Becker LC, Bis JC, Boerwinkle E, Bowden DW, Carson AP, Ellinor PT, Fornage M, Franceschini N, Freedman BI, Heard-Costa NL, Hou L, Chen YI, Kenny EE, Kooperberg C, Kral BG, Loos RJF, Lutz SM, Manson JE, Martin LW, Mitchell BD, Nassir R, Palmer ND, Post WS, Preuss MH, Psaty BM, Raffield LM, Regan EA, Rich SS, Smith JA, Taylor KD, Yanek LR, Young KA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Hilliard AT, Tcheandjieu C, Peyser PA, Vasan RS, Rotter JI, Miller CL, Assimes TL, de Vries PS, Do R. Rocheleau G, et al. Nat Commun. 2024 Oct 9;15(1):8741. doi: 10.1038/s41467-024-52939-6. Nat Commun. 2024. PMID: 39384761 Free PMC article.
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, Arvanitis M, Smith AV, Heavner B, Barwick L, Becker LC, Bis JC, Blangero J, Bleecker ER, Burchard EG, Celedón JC, Chang YPC, Custer B, Darbar D, de las Fuentes L, DeMeo DL, Freedman BI, Garrett ME, Gladwin MT, Heckbert SR, Hidalgo BA, Irvin MR, Islam T, Johnson WC, Kaab S, Launer L, Lee J, Liu S, Moscati A, North KE, Peyser PA, Rafaels N, Seidman C, Weeks DE, Wen F, Wheeler MM, Williams LK, Yang IV, Zhao W, Aslibekyan S, Auer PL, Bowden DW, Cade BE, Chen Z, Cho MH, Cupples LA, Curran JE, Daya M, Deka R, Eng C, Fingerlin TE, Guo X, Hou L, Hwang SJ, Johnsen JM, Kenny EE, Levin AM, Liu C, Minster RL, Naseri T, Nouraie M, Reupena MS, Sabino EC, Smith JA, Smith NL, Su JL, Taylor JG, Telen MJ, Tiwari HK, Tracy RP, White MJ, Zhang Y, Wiggins KL, Weiss ST, Vasan RS, Taylor KD, Sinner MF, Silverman EK, Shoemaker MB, Sheu WH, Sciurba F, Schwartz DA, Rotter JI, Roden D, Redline S, Raby BA, Psaty BM, Peralta JM, Palmer ND, Nekhai S, Montgomery CG, Mitchell BD, Meyers DA, McGarvey ST; NHLBI CARE Network; Mak AC, Loos RJ, Kumar … See abstract for full author list ➔ Taub MA, et al. Cell Genom. 2022 Jan 12;2(1):100084. doi: 10.1016/j.xgen.2021.100084. Epub 2022 Jan 13. Cell Genom. 2022. PMID: 35530816 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. Nat Commun. 2022 Oct 11;13(1):5995. doi: 10.1038/s41467-022-33510-7. Nat Commun. 2022. PMID: 36220816 Free PMC article.
Variant-specific inflation factors for assessing population stratification at the phenotypic variance level.
Sofer T, Zheng X, Laurie CA, Gogarten SM, Brody JA, Conomos MP, Bis JC, Thornton TA, Szpiro A, O'Connell JR, Lange EM, Gao Y, Cupples LA, Psaty BM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Rice KM. Sofer T, et al. Nat Commun. 2021 Jun 9;12(1):3506. doi: 10.1038/s41467-021-23655-2. Nat Commun. 2021. PMID: 34108454 Free PMC article.
Multiethnic genome-wide and HLA association study of total serum IgE level.
Daya M, Cox C, Acevedo N, Boorgula MP, Campbell M, Chavan S, Cho MH, David GL, Kachroo P, Lasky-Su J, Li X, McHugh CP, Qiao D, Rafaels N, Beck LA, Bleecker ER, Caraballo L, Cupples AL, Figueiredo CA, Gallo RL, Hanifin J, Hansel NN, Hata TR, Hersh CP, Knight-Madden J, Leung DYM, Guttman-Yassky E, Meyers DA, O'Connor G, Ober C, Ong PY, Ortega VE, Paller AS, Putcha N, Reed RM, Schneider LC, Silverman EK, Slifka MK, Spergel JM, Vasan RS, Viaud-Martinez KA, Watson H, Weiss ST; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Ruczinski I, Beaty TH, Mathias RA, Barnes KC. Daya M, et al. J Allergy Clin Immunol. 2021 Dec;148(6):1589-1595. doi: 10.1016/j.jaci.2021.09.011. Epub 2021 Sep 15. J Allergy Clin Immunol. 2021. PMID: 34536413 Free PMC article.
Whole genome sequence analysis of apparent treatment resistant hypertension status in participants from the Trans-Omics for Precision Medicine program.
Armstrong ND, Srinivasasainagendra V, Ammous F, Assimes TL, Beitelshees AL, Brody J, Cade BE, Ida Chen YD, Chen H, de Vries PS, Floyd JS, Franceschini N, Guo X, Hellwege JN, House JS, Hwu CM, Kardia SLR, Lange EM, Lange LA, McDonough CW, Montasser ME, O'Connell JR, Shuey MM, Sun X, Tanner RM, Wang Z, Zhao W, Carson AP, Edwards TL, Kelly TN, Kenny EE, Kooperberg C, Loos RJF, Morrison AC, Motsinger-Reif A, Psaty BM, Rao DC, Redline S, Rich SS, Rotter JI, Smith JA, Smith AV, Irvin MR, Arnett DK. Armstrong ND, et al. Front Genet. 2023 Dec 13;14:1278215. doi: 10.3389/fgene.2023.1278215. eCollection 2023. Front Genet. 2023. PMID: 38162683 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.
32 results