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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
Kowalski MH, Qian H, Hou Z, Rosen JD, Tapia AL, Shan Y, Jain D, Argos M, Arnett DK, Avery C, Barnes KC, Becker LC, Bien SA, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Buyske S, Cai J, Cho MH, Choi SH, Choquet H, Cupples LA, Cushman M, Daya M, de Vries PS, Ellinor PT, Faraday N, Fornage M, Gabriel S, Ganesh SK, Graff M, Gupta N, He J, Heckbert SR, Hidalgo B, Hodonsky CJ, Irvin MR, Johnson AD, Jorgenson E, Kaplan R, Kardia SLR, Kelly TN, Kooperberg C, Lasky-Su JA, Loos RJF, Lubitz SA, Mathias RA, McHugh CP, Montgomery C, Moon JY, Morrison AC, Palmer ND, Pankratz N, Papanicolaou GJ, Peralta JM, Peyser PA, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith NL, Taylor KD, Thornton TA, Tiwari HK, Tracy RP, Wang T, Weiss ST, Weng LC, Wiggins KL, Wilson JG, Yanek LR, Zöllner S, North KE, Auer PL; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology & Hemostasis Working Group; Raffield LM, Reiner AP, Li Y. Kowalski MH, et al. PLoS Genet. 2019 Dec 23;15(12):e1008500. doi: 10.1371/journal.pgen.1008500. eCollection 2019 Dec. PLoS Genet. 2019. PMID: 31869403 Free PMC article.
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.
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential.
Nakao T, Bick AG, Taub MA, Zekavat SM, Uddin MM, Niroula A, Carty CL, Lane J, Honigberg MC, Weinstock JS, Pampana A, Gibson CJ, Griffin GK, Clarke SL, Bhattacharya R, Assimes TL, Emery LS, Stilp AM, Wong Q, Broome J, Laurie CA, Khan AT, Smith AV, Blackwell TW, Codd V, Nelson CP, Yoneda ZT, Peralta JM, Bowden DW, Irvin MR, Boorgula M, Zhao W, Yanek LR, Wiggins KL, Hixson JE, Gu CC, Peloso GM, Roden DM, Reupena MS, Hwu CM, DeMeo DL, North KE, Kelly S, Musani SK, Bis JC, Lloyd-Jones DM, Johnsen JM, Preuss M, Tracy RP, Peyser PA, Qiao D, Desai P, Curran JE, Freedman BI, Tiwari HK, Chavan S, Smith JA, Smith NL, Kelly TN, Hidalgo B, Cupples LA, Weeks DE, Hawley NL, Minster RL; Samoan Obesity, Lifestyle and Genetic Adaptations Study (OLaGA) Group; Deka R, Naseri TT, de Las Fuentes L, Raffield LM, Morrison AC, Vries PS, Ballantyne CM, Kenny EE, Rich SS, Whitsel EA, Cho MH, Shoemaker MB, Pace BS, Blangero J, Palmer ND, Mitchell BD, Shuldiner AR, Barnes KC, Redline S, Kardia SLR, Abecasis GR, Becker LC, Heckbert SR, He J, Post W, Arnett DK, Vasan RS, Darbar D, Weiss ST, McGarvey ST, de Andrade M, Chen YI, Kaplan RC, Meyers DA, Custer BS, Correa A, Psaty BM, Fornage M, Manson JE, Boerwinkle … See abstract for full author list ➔ Nakao T, et al. Sci Adv. 2022 Apr 8;8(14):eabl6579. doi: 10.1126/sciadv.abl6579. Epub 2022 Apr 6. Sci Adv. 2022. PMID: 35385311 Free PMC article.
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu X, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo X, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Köttgen A, Lange LA, Lasky-Su J, Levy D, Lin X, Lin KH, Liu C, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, Meyers D… See abstract for full author list ➔ Taliun D, et al. Nature. 2021 Feb;590(7845):290-299. doi: 10.1038/s41586-021-03205-y. Epub 2021 Feb 10. Nature. 2021. PMID: 33568819 Free PMC article.
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.
Little A, Hu Y, Sun Q, Jain D, Broome J, Chen MH, Thibord F, McHugh C, Surendran P, Blackwell TW, Brody JA, Bhan A, Chami N, de Vries PS, Ekunwe L, Heard-Costa N, Hobbs BD, Manichaikul A, Moon JY, Preuss MH, Ryan K, Wang Z, Wheeler M, Yanek LR, Abecasis GR, Almasy L, Beaty TH, Becker LC, Blangero J, Boerwinkle E, Butterworth AS, Choquet H, Correa A, Curran JE, Faraday N, Fornage M, Glahn DC, Hou L, Jorgenson E, Kooperberg C, Lewis JP, Lloyd-Jones DM, Loos RJF, Min YI, Mitchell BD, Morrison AC, Nickerson DA, North KE, O'Connell JR, Pankratz N, Psaty BM, Vasan RS, Rich SS, Rotter JI, Smith AV, Smith NL, Tang H, Tracy RP, Conomos MP, Laurie CA, Mathias RA, Li Y, Auer PL; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Thornton T, Reiner AP, Johnson AD, Raffield LM. Little A, et al. Hum Mol Genet. 2022 Feb 3;31(3):347-361. doi: 10.1093/hmg/ddab252. Hum Mol Genet. 2022. PMID: 34553764 Free PMC article.
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H, Belk JA, Jan M, Qi Y, Sarnowski C, Wirth S, Ma L, Chrostek MR, Ahmad H, Nachun D, Yao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Beiser A, Bick AG, Bis JC, Fornage M, Longstreth WT Jr, Lopez OL, Natarajan P, Psaty BM, Satizabal CL, Weinstock J, Larson EB, Crane PK, Keene CD, Seshadri S, Satpathy AT, Montine TJ, Jaiswal S. Bouzid H, et al. Nat Med. 2023 Jul;29(7):1662-1670. doi: 10.1038/s41591-023-02397-2. Epub 2023 Jun 15. Nat Med. 2023. PMID: 37322115 Free PMC article.
Protein-metabolite association studies identify novel proteomic determinants of metabolite levels in human plasma.
Benson MD, Eisman AS, Tahir UA, Katz DH, Deng S, Ngo D, Robbins JM, Hofmann A, Shi X, Zheng S, Keyes M, Yu Z, Gao Y, Farrell L, Shen D, Chen ZZ, Cruz DE, Sims M, Correa A, Tracy RP, Durda P, Taylor KD, Liu Y, Johnson WC, Guo X, Yao J, Chen YI, Manichaikul AW, Jain D, Yang Q; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Bouchard C, Sarzynski MA, Rich SS, Rotter JI, Wang TJ, Wilson JG, Clish CB, Sarkar IN, Natarajan P, Gerszten RE. Benson MD, et al. Cell Metab. 2023 Sep 5;35(9):1646-1660.e3. doi: 10.1016/j.cmet.2023.07.012. Epub 2023 Aug 14. Cell Metab. 2023. PMID: 37582364
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.
McCartney DL, Min JL, Richmond RC, Lu AT, Sobczyk MK, Davies G, Broer L, Guo X, Jeong A, Jung J, Kasela S, Katrinli S, Kuo PL, Matias-Garcia PR, Mishra PP, Nygaard M, Palviainen T, Patki A, Raffield LM, Ratliff SM, Richardson TG, Robinson O, Soerensen M, Sun D, Tsai PC, van der Zee MD, Walker RM, Wang X, Wang Y, Xia R, Xu Z, Yao J, Zhao W, Correa A, Boerwinkle E, Dugué PA, Durda P, Elliott HR, Gieger C; Genetics of DNA Methylation Consortium; de Geus EJC, Harris SE, Hemani G, Imboden M, Kähönen M, Kardia SLR, Kresovich JK, Li S, Lunetta KL, Mangino M, Mason D, McIntosh AM, Mengel-From J, Moore AZ, Murabito JM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Ollikainen M, Pankow JS, Pedersen NL, Peters A, Polidoro S, Porteous DJ, Raitakari O, Rich SS, Sandler DP, Sillanpää E, Smith AK, Southey MC, Strauch K, Tiwari H, Tanaka T, Tillin T, Uitterlinden AG, Van Den Berg DJ, van Dongen J, Wilson JG, Wright J, Yet I, Arnett D, Bandinelli S, Bell JT, Binder AM, Boomsma DI, Chen W, Christensen K, Conneely KN, Elliott P, Ferrucci L, Fornage M, Hägg S, Hayward C, Irvin M, Kaprio J, Lawlor DA, Lehtimäki T, Lohoff FW, Milani L, Milne RL, Probst-Hensch N, Reiner AP, Ritz B, Rotte… See abstract for full author list ➔ McCartney DL, et al. Genome Biol. 2021 Jun 29;22(1):194. doi: 10.1186/s13059-021-02398-9. Genome Biol. 2021. PMID: 34187551 Free PMC article.
Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium.
Jiang MZ, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FF, Manansala R, Gogarten SM, Li Z, Polfus LM, Salimi S, Bis JC, Pankratz N, Yanek LR, Durda P, Tracy RP, Rich SS, Rotter JI, Mitchell BD, Lewis JP, Psaty BM, Pratte KA, Silverman EK, Kaplan RC, Avery C, North K, Mathias RA, Faraday N, Lin H, Wang B, Carson AP, Norwood AF, Gibbs RA, Kooperberg C, Lundin J, Peters U, Dupuis J, Hou L, Fornage M, Benjamin EJ, Reiner AP, Bowler RP, Lin X, Auer PL, Raffield LM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Inflammation Working Group. Jiang MZ, et al. bioRxiv [Preprint]. 2023 Sep 12:2023.09.10.555215. doi: 10.1101/2023.09.10.555215. bioRxiv. 2023. PMID: 37745480 Free PMC article. Preprint.
Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project.
Hu Y, Haessler JW, Manansala R, Wiggins KL, Moscati A, Beiser A, Heard-Costa NL, Sarnowski C, Raffield LM, Chung J, Marini S, Anderson CD, Rosand J, Xu H, Sun X, Kelly TN, Wong Q, Lange LA, Rotter JI, Correa A, Vasan RS, Seshadri S, Rich SS, Do R, Loos RJF, Longstreth WT Jr, Bis JC, Psaty BM, Tirschwell DL, Assimes TL, Silver B, Liu S, Jackson R, Wassertheil-Smoller S, Mitchell BD, Fornage M, Auer PL, Reiner AP, Kooperberg C; Trans-Omics for Precision Medicine (TOPMed) Stroke Working Group, the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Hu Y, et al. Stroke. 2022 Mar;53(3):875-885. doi: 10.1161/STROKEAHA.120.031792. Epub 2021 Nov 3. Stroke. 2022. PMID: 34727735 Free PMC article.
88 results