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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. Among authors: viaud martinez ka. 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 low-density lipoprotein cholesterol across 246 K individuals.
Selvaraj MS, Li X, Li Z, Van Buren E, Haidermota S, Postupaka D, Hornsby W, Bis JC, Brody JA, Cade BE, Chung RH, Curran JE, Damrauer SM, de Las Fuentes L, de Vries PS, Duggirala R, Freedman BI, Graff M, Guo X, Hidalgo BA, Hou L, Irvin R, Judy R, Kalyani RR, Kelly TN, Konigsberg IR, Kral BG, Kwee LC, Levy D, Li C, Manichaikul AW, Martin LW, Montasser ME, Morrison AC, Naseri T, North KE, O'Connell JR, Palmer ND, Peyser PA, Reiner AP, Shah SH, Smit RAJ, Smith JA, Taylor KD, Tiwari H, Tsai MY, Viali S, Wang Z, Wang Y, Zhao W, Arnett DK, Blangero J, Boerwinkle E, Bowden DW, Carlson JC, Chen YI, Ellinor PT, Fornage M, He J, Heard-Costa N, Kaplan RC, Kardia SLR, Kooperberg C, Kraus WE, Lange LA, Loos RJF, Mitchell BD, Psaty BM, Rader DJ, Redline S, Rich SS, Yanek LR, Gibbs R, Gabriel S, Viaud-Martinez KA, Dutcher SK, Germer S, Kim R, Rotter JI, Lin X, Peloso GM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Natarajan P. Selvaraj MS, et al. Among authors: viaud martinez ka. Genome Biol. 2025 Sep 9;26(1):273. doi: 10.1186/s13059-025-03698-0. Genome Biol. 2025. PMID: 40926209 Free PMC article.
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.
de Vries PS, Conomos MP, Singh K, Nicholson CJ, Jain D, Hasbani NR, Jiang W, Lee S, Lino Cardenas CL, Lutz SM, Wong D, Guo X, Yao J, Young EP, Tcheandjieu C, Hilliard AT, Bis JC, Bielak LF, Brown MR, Musharoff S, Clarke SL, Terry JG, Palmer ND, Yanek LR, Xu H, Heard-Costa N, Wessel J, Selvaraj MS, Li RH, Sun X, Turner AW, Stilp AM, Khan A, Newman AB, Rasheed A, Freedman BI, Kral BG, McHugh CP, Hodonsky C, Saleheen D, Herrington DM, Jacobs DR Jr, Nickerson DA, Boerwinkle E, Wang FF, Heiss G, Jun G, Kinney GL, Sigurslid HH, Doddapaneni H, Hall IM, Bensenor IM, Broome J, Crapo JD, Wilson JG, Smith JA, Blangero J, Vargas JD, Mosquera JV, Smith JD, Viaud-Martinez KA, Ryan KA, Young KA, Taylor KD, Lange LA, Emery LS, Bittencourt MS, Budoff MJ, Montasser ME, Yu M, Mahaney MC, Mahamdeh MS, Fornage M, Franceschini N, Lotufo PA, Natarajan P, Wong Q, Mathias RA, Gibbs RA, Do R, Mehran R, Tracy RP, Kim RW, Nelson SC, Damrauer SM, Kardia SLR, Rich SS, Fuster V, Napolioni V, Zhao W, Tian W, Yin X, Min YI, Manning AK, Peloso G, Kelly TN, O'Donnell CJ, Morrison AC, Curran JE, Zapol WM, Bowden DW, Becker LC, Correa A, Mitchell BD, Psaty BM, Carr JJ, Pereira AC, Assimes TL, Stitziel NO, Hoka… See abstract for full author list ➔ de Vries PS, et al. Among authors: viaud martinez ka. Nat Cardiovasc Res. 2023 Dec;2(12):1159-1172. doi: 10.1038/s44161-023-00375-y. Epub 2023 Dec 4. Nat Cardiovasc Res. 2023. PMID: 38817323 Free PMC article.
Genome-wide association study and multi-ancestry meta-analysis identify common variants associated with carotid artery intima-media thickness.
Meena D, Huang J, Zare M, Hasbani NR, Romuald BP, Mustafa R, van der Laan SW, Xu H, Terry JG, Bis JC, Jain D, Palmer ND, Heard-Costa N, Min YI, Guo X, Yao J, Taylor KD, Tan J, Peralta J, Pereira AC, Khan A, Choudhury A, Newman AB, Xiang AH, Hingorani A, Freedman BI, O'Donnell CJ, Giambartolomei C, Herrington DM, Jacobs DR Jr, Klarin D, Wang FF, Heiss G, Doddapaneni H, Hodis HN, Broome J, Wilson JG, Brandenburg JT, Blangero J, Krieger JE, Smith JD, Viaud-Martinez KA, Ryan KA, Lange LA, Montasser ME, Mahaney MC, Mokry M, Fornage M, Munroe P, Gibbs RA, Tracy RP, Kim RW, Damrauer SM, Rich SS, Hsueh WA, Chen YI; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, The Million Veteran Program (MVP), TOPMed Atherosclerosis Working Group; Morrison AC, Mitchell BD, Carr JJ, Psaty BM, Bowden DW, Vasan RS, Correa A, Post WS, Goodarzi MO, Raffel LJ, Curran JE, Ramsay M, Rotter JI, Elliott P, Franceschini N, de Vries PS, Tzoulaki I, Dehghan A. Meena D, et al. Among authors: viaud martinez ka. medRxiv [Preprint]. 2025 Apr 14:2025.04.11.25325582. doi: 10.1101/2025.04.11.25325582. medRxiv. 2025. PMID: 40321265 Free PMC article. Preprint.
Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia.
Li R, Gagliano Taliun SA, Liao K, Flickinger M, Sobell JL, Genovese G, Locke AE, Chiu RR, LeFaive J, Wang J, Martins T, Chapman S, Neumann A, Handsaker RE, Arnett DK, Barnes KC, Boerwinkle E, Braff D, Cade BE, Fornage M, Gibbs RA, Hoth KF, Hou L, Kooperberg C, Loos RJF, Metcalf GA, Montgomery CG, Morrison AC, Qin ZS, Redline S, Reiner AP, Rich SS, Rotter JI, Taylor KD, Viaud-Martinez KA; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; Genomic Psychiatry Cohort Investigators; Bigdeli TB, Gabriel S, Zollner S, Smith AV, Abecasis G, McCarroll SA, Pato MT, Pato CN, Boehnke M, Knowles J, Kang HM, Ophoff RA, Ernst J, Scott LJ. Li R, et al. Among authors: viaud martinez ka. HGG Adv. 2025 Aug 30;7(1):100499. doi: 10.1016/j.xhgg.2025.100499. Online ahead of print. HGG Adv. 2025. PMID: 40886051 Free PMC article.
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia.
Li R, Taliun SAG, Liao K, Flickinger M, Sobell JL, Genovese G, Locke AE, Chiu RR, LeFaive J, Wang J, Martins T, Chapman S, Neumann A, Handsaker RE, Arnett DK, Barnes KC, Boerwinkle E, Braff D, Cade BE, Fornage M, Gibbs RA, Hoth KF, Hou L, Kooperberg C, Loos RJF, Metcalf GA, Montgomery CG, Morrison AC, Qin ZS, Redline S, Reiner AP, Rich SS, Rotter JI, Taylor KD, Viaud-Martinez KA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Genomic Psychiatry Cohort investigators; Bigdeli TB, Gabriel S, Zollner S, Smith AV, Abecasis G, McCarroll S, Pato MT, Pato CN, Boehnke M, Knowles J, Kang HM, Ophoff RA, Ernst J, Scott LJ. Li R, et al. Among authors: viaud martinez ka. medRxiv [Preprint]. 2025 Feb 19:2024.12.27.24319111. doi: 10.1101/2024.12.27.24319111. medRxiv. 2025. Update in: HGG Adv. 2025 Aug 30;7(1):100499. doi: 10.1016/j.xhgg.2025.100499. PMID: 39763555 Free PMC article. Updated. Preprint.
Association of genetic scores related to insulin resistance with neurological outcomes in ancestrally diverse cohorts from the Trans-Omics for Precision Medicine (TOPMed) program.
Sarnowski C, Zhang Y, Ammous F, Shade LMP, DiCorpo D, Jian X, Arnett DK, Austin TR, Beiser A, Bis JC, Blangero J, Boerwinkle E, Bressler J, Curran JE, DeCarli CS, Doddapaneni H, Dupuis J, Fardo DW, Florez JC, Gabriel S, Gibbs RA, Glahn DC, Gupta N, González HM, González KA, Hatzikotoulas K, Hayden KM, Heckbert SR, Hidalgo B, Huerta-Chagoya A, Hughes TM, Kardia SLR, Kooperberg CL, Launer LJ, Longstreth WT Jr; T2DGGI consortium; MAGIC consortium; Mandla R, Mathias RA, Morris AP, Mosley TH, Nasrallah IM, Nyquist P, Psaty BM, Qi Q, Raffield LM, Rayner NW, Reiner AP, Satizabal CL, Selvin E, Sevilla-Gonzalez MDR, Smith AV, Smith JA, Smith K, Snively BM, Southam L, Sofer T, Suzuki K, Taylor HJ, Udler MS, Viaud-Martinez KA, Wassertheil-Smoller S, Wood AC, Yanek LR, Yin X, Manning AK, Rotter JI, Rich SS, Meigs JB, Fornage M, Seshadri S, Morrison AC; TOPMed Diabetes working group; and the TOPMed Neurocognitive working group. Sarnowski C, et al. Among authors: viaud martinez ka. Commun Biol. 2025 Sep 24;8(1):1352. doi: 10.1038/s42003-025-08674-9. Commun Biol. 2025. PMID: 40993182 Free PMC article.
Structural variation across 138,134 samples in the TOPMed consortium.
Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, Shen H, Pasham D, Bhamidipati S, Kottapalli K, Arnett DK, Ashley-Koch A, Auer PL, Beutel KM, Bis JC, Blangero J, Bowden DW, Brody JA, Cade BE, Chen YI, Cho MH, Curran JE, Fornage M, Freedman BI, Fingerlin T, Gelb BD, Hou L, Hung YJ, Kane JP, Kaplan R, Kim W, Loos RJF, Marcus GM, Mathias RA, McGarvey ST, Montgomery C, Naseri T, Nouraie SM, Preuss MH, Palmer ND, Peyser PA, Raffield LM, Ratan A, Redline S, Reupena S, Rotter JI, Rich SS, Rienstra M, Ruczinski I, Sankaran VG, Schwartz DA, Seidman CE, Seidman JG, Silverman EK, Smith JA, Stilp A, Taylor KD, Telen MJ, Weiss ST, Williams LK, Wu B, Yanek LR, Zhang Y, Lasky-Su J, Gingras MC, Dutcher SK, Eichler EE, Gabriel S, Germer S, Kim R, Viaud-Martinez KA, Nickerson DA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Luo J, Reiner A, Gibbs RA, Boerwinkle E, Abecasis G, Sedlazeck FJ. Jun G, et al. Among authors: viaud martinez ka. bioRxiv [Preprint]. 2023 Jan 25:2023.01.25.525428. doi: 10.1101/2023.01.25.525428. bioRxiv. 2023. PMID: 36747810 Free PMC article. Preprint.
Structural variation across 138,134 samples in the TOPMed consortium.
Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, Shen H, Pasham D, Bhamidipati S, Kottapalli K, Arnett DK, Ashley-Koch A, Auer PL, Beutel KM, Bis JC, Blangero J, Bowden DW, Brody JA, Cade BE, Chen YI, Cho MH, Curran JE, Fornage M, Freedman BI, Fingerlin T, Gelb BD, Hou L, Hung YJ, Kane JP, Kaplan R, Kim W, Loos RJF, Marcus GM, Mathias RA, McGarvey ST, Montgomery C, Naseri T, Nouraie SM, Preuss MH, Palmer ND, Peyser PA, Raffield LM, Ratan A, Redline S, Reupena S, Rotter JI, Rich SS, Rienstra M, Ruczinski I, Sankaran VG, Schwartz DA, Seidman CE, Seidman JG, Silverman EK, Smith JA, Stilp A, Taylor KD, Telen MJ, Weiss ST, Williams LK, Wu B, Yanek LR, Zhang Y, Lasky-Su J, Gingras MC, Dutcher SK, Eichler EE, Gabriel S, Germer S, Kim R, Viaud-Martinez KA, Nickerson DA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Luo J, Reiner A, Gibbs RA, Boerwinkle E, Abecasis G, Sedlazeck FJ. Jun G, et al. Among authors: viaud martinez ka. Res Sq [Preprint]. 2023 Feb 3:rs.3.rs-2515453. doi: 10.21203/rs.3.rs-2515453/v1. Res Sq. 2023. PMID: 36778386 Free PMC article. Preprint.
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: viaud martinez ka. Nat Commun. 2022 Oct 11;13(1):5995. doi: 10.1038/s41467-022-33510-7. Nat Commun. 2022. PMID: 36220816 Free PMC article.
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