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Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.
Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, Young WJ, Traylor M, Giri A, Zheng Z, Zeng J, Chasman DI, Morris AP, Caulfield MJ, Hwang SJ, Kooner JS, Conen D, Attia JR, Morrison AC, Loos RJF, Kristiansson K, Schmidt R, Hicks AA, Pramstaller PP, Nelson CP, Samani NJ, Risch L, Gyllensten U, Melander O, Riese H, Wilson JF, Campbell H, Rich SS, Psaty BM, Lu Y, Rotter JI, Guo X, Rice KM, Vollenweider P, Sundström J, Langenberg C, Tobin MD, Giedraitis V, Luan J, Tuomilehto J, Kutalik Z, Ripatti S, Salomaa V, Girotto G, Trompet S, Jukema JW, van der Harst P, Ridker PM, Giulianini F, Vitart V, Goel A, Watkins H, Harris SE, Deary IJ, van der Most PJ, Oldehinkel AJ, Keavney BD, Hayward C, Campbell A, Boehnke M, Scott LJ, Boutin T, Mamasoula C, Järvelin MR, Peters A, Gieger C, Lakatta EG, Cucca F, Hui J, Knekt P, Enroth S, De Borst MH, Polašek O, Concas MP, Catamo E, Cocca M, Li-Gao R, Hofer E, Schmidt H, Spedicati B, Waldenberger M, Strachan DP, Laan M, Teumer A, Dörr M, Gudnason V, Cook JP, Ruggiero D, Kolcic I, Boerwinkle E, Traglia M, Lehtimäki T, Raitakari OT, Johnson AD, Newton-Cheh C, Brown MJ, Dominiczak AF, Sever PJ, Poul… See abstract for full author list ➔ Keaton JM, et al. Among authors: boerwinkle e. Nat Genet. 2024 May;56(5):778-791. doi: 10.1038/s41588-024-01714-w. Epub 2024 Apr 30. Nat Genet. 2024. PMID: 38689001 Free PMC article.
Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries.
Mishra A, Malik R, Hachiya T, Jürgenson T, Namba S, Posner DC, Kamanu FK, Koido M, Le Grand Q, Shi M, He Y, Georgakis MK, Caro I, Krebs K, Liaw YC, Vaura FC, Lin K, Winsvold BS, Srinivasasainagendra V, Parodi L, Bae HJ, Chauhan G, Chong MR, Tomppo L, Akinyemi R, Roshchupkin GV, Habib N, Jee YH, Thomassen JQ, Abedi V, Cárcel-Márquez J, Nygaard M, Leonard HL, Yang C, Yonova-Doing E, Knol MJ, Lewis AJ, Judy RL, Ago T, Amouyel P, Armstrong ND, Bakker MK, Bartz TM, Bennett DA, Bis JC, Bordes C, Børte S, Cain A, Ridker PM, Cho K, Chen Z, Cruchaga C, Cole JW, de Jager PL, de Cid R, Endres M, Ferreira LE, Geerlings MI, Gasca NC, Gudnason V, Hata J, He J, Heath AK, Ho YL, Havulinna AS, Hopewell JC, Hyacinth HI, Inouye M, Jacob MA, Jeon CE, Jern C, Kamouchi M, Keene KL, Kitazono T, Kittner SJ, Konuma T, Kumar A, Lacaze P, Launer LJ, Lee KJ, Lepik K, Li J, Li L, Manichaikul A, Markus HS, Marston NA, Meitinger T, Mitchell BD, Montellano FA, Morisaki T, Mosley TH, Nalls MA, Nordestgaard BG, O'Donnell MJ, Okada Y, Onland-Moret NC, Ovbiagele B, Peters A, Psaty BM, Rich SS, Rosand J, Sabatine MS, Sacco RL, Saleheen D, Sandset EC, Salomaa V, Sargurupremraj M, Sasaki M, Satizabal CL, Schmidt CO, Sh… See abstract for full author list ➔ Mishra A, et al. Nature. 2022 Dec;612(7938):E7. doi: 10.1038/s41586-022-05492-5. Nature. 2022. PMID: 36376532 Free PMC article. No abstract available.
Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease.
Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf G, Franceschini N, Tin A, Köttgen A, Francis M; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium TOPMed Kidney Function Working Group; Brody JA, Kestenbaum B, Sitlani CM, Mychaleckyj JC, Kramer H, Lange LA, Guo X, Hwang SJ, Irvin MR, Smith JA, Yanek LR, Vaidya D, Chen YI, Fornage M, Lloyd-Jones DM, Hou L, Mathias RA, Mitchell BD, Peyser PA, Kardia SLR, Arnett DK, Correa A, Raffield LM, Vasan RS, Cupple LA, Levy D, Kaplan RC, North KE, Rotter JI, Kooperberg C, Reiner AP, Psaty BM, Tracy RP, Gibbs RA, Morrison AC, Feldman H, Boerwinkle E, He J, Kelly TN; CRIC Study Investigators. Pan Y, et al. Among authors: boerwinkle e. Hum Mol Genet. 2023 Mar 6;32(6):1048-1060. doi: 10.1093/hmg/ddac290. Hum Mol Genet. 2023. PMID: 36444934 Free PMC article.
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.
Aragam KG, Jiang T, Goel A, Kanoni S, Wolford BN, Atri DS, Weeks EM, Wang M, Hindy G, Zhou W, Grace C, Roselli C, Marston NA, Kamanu FK, Surakka I, Venegas LM, Sherliker P, Koyama S, Ishigaki K, Åsvold BO, Brown MR, Brumpton B, de Vries PS, Giannakopoulou O, Giardoglou P, Gudbjartsson DF, Güldener U, Haider SMI, Helgadottir A, Ibrahim M, Kastrati A, Kessler T, Kyriakou T, Konopka T, Li L, Ma L, Meitinger T, Mucha S, Munz M, Murgia F, Nielsen JB, Nöthen MM, Pang S, Reinberger T, Schnitzler G, Smedley D, Thorleifsson G, von Scheidt M, Ulirsch JC; Biobank Japan; EPIC-CVD; Arnar DO, Burtt NP, Costanzo MC, Flannick J, Ito K, Jang DK, Kamatani Y, Khera AV, Komuro I, Kullo IJ, Lotta LA, Nelson CP, Roberts R, Thorgeirsson G, Thorsteinsdottir U, Webb TR, Baras A, Björkegren JLM, Boerwinkle E, Dedoussis G, Holm H, Hveem K, Melander O, Morrison AC, Orho-Melander M, Rallidis LS, Ruusalepp A, Sabatine MS, Stefansson K, Zalloua P, Ellinor PT, Farrall M, Danesh J, Ruff CT, Finucane HK, Hopewell JC, Clarke R, Gupta RM, Erdmann J, Samani NJ, Schunkert H, Watkins H, Willer CJ, Deloukas P, Kathiresan S, Butterworth AS; CARDIoGRAMplusC4D Consortium. Aragam KG, et al. Among authors: boerwinkle e. Nat Genet. 2022 Dec;54(12):1803-1815. doi: 10.1038/s41588-022-01233-6. Epub 2022 Dec 6. Nat Genet. 2022. PMID: 36474045 Free PMC article.
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Dron JS, Patel AP, Zhang Y, Jurgens SJ, Maamari DJ, Wang M, Boerwinkle E, Morrison AC, de Vries PS, Fornage M, Hou L, Lloyd-Jones DM, Psaty BM, Tracy RP, Bis JC, Vasan RS, Levy D, Heard-Costa N, Rich SS, Guo X, Taylor KD, Gibbs RA, Rotter JI, Willer CJ, Oelsner EC, Moran AE, Peloso GM, Natarajan P, Khera AV. Dron JS, et al. Among authors: boerwinkle e. JAMA Cardiol. 2023 Mar 1;8(3):258-267. doi: 10.1001/jamacardio.2022.5271. JAMA Cardiol. 2023. PMID: 36723951 Free PMC article.
Investigating Gene-Diet Interactions Impacting the Association Between Macronutrient Intake and Glycemic Traits.
Westerman KE, Walker ME, Gaynor SM, Wessel J, DiCorpo D, Ma J, Alonso A, Aslibekyan S, Baldridge AS, Bertoni AG, Biggs ML, Brody JA, Chen YI, Dupuis J, Goodarzi MO, Guo X, Hasbani NR, Heath A, Hidalgo B, Irvin MR, Johnson WC, Kalyani RR, Lange L, Lemaitre RN, Liu CT, Liu S, Moon JY, Nassir R, Pankow JS, Pettinger M, Raffield LM, Rasmussen-Torvik LJ, Selvin E, Senn MK, Shadyab AH, Smith AV, Smith NL, Steffen L, Talegakwar S, Taylor KD, de Vries PS, Wilson JG, Wood AC, Yanek LR, Yao J, Zheng Y, Boerwinkle E, Morrison AC, Fornage M, Russell TP, Psaty BM, Levy D, Heard-Costa NL, Ramachandran VS, Mathias RA, Arnett DK, Kaplan R, North KE, Correa A, Carson A, Rotter JI, Rich SS, Manson JE, Reiner AP, Kooperberg C, Florez JC, Meigs JB, Merino J, Tobias DK, Chen H, Manning AK. Westerman KE, et al. Among authors: boerwinkle e. Diabetes. 2023 May 1;72(5):653-665. doi: 10.2337/db22-0851. Diabetes. 2023. PMID: 36791419 Free PMC article.
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Weinstock JS, Gopakumar J, Burugula BB, Uddin MM, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, Mack TM, Luna SE, Prothro KP, Mitchell SR, Laurie CA, Broome JG, Taylor KD, Guo X, Sinner MF, von Falkenhausen AS, Kääb S, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Hou L, Lloyd-Jones DM, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Palmer ND, Freedman BI, Bowden DW, Cho MH, DeMeo DL, Vasan RS, Yanek LR, Becker LC, Kardia SLR, Peyser PA, He J, Rienstra M, Van der Harst P, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Cutler MJ, Knight S, Muhlestein JB, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Tracy RP, Konkle BA, Johnsen JM, Wheeler MM, Smith JG, Melander O, Nilsson PM, Custer BS, Duggirala R, Curran JE, Blangero J, McGarvey S, Williams LK, Xiao S, Yang M, Gu CC, Chen YI, Lee WJ, Marcus GM, Kane JP, Pullinger CR, Shoemaker MB, Darbar D, Roden DM, Albert C, Kooperberg C, Zhou Y, Manson JE, Desai P, Johnson AD, Mathias RA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Blackwell TW, Abecasis GR, Smith AV, Kang HM, Sat… See abstract for full author list ➔ Weinstock JS, et al. Among authors: boerwinkle e. Nature. 2023 Apr;616(7958):755-763. doi: 10.1038/s41586-023-05806-1. Epub 2023 Apr 12. Nature. 2023. PMID: 37046083 Free PMC article.
Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Among authors: boerwinkle e. Nature. 2023 Apr;616(7958):747-754. doi: 10.1038/s41586-023-05857-4. Epub 2023 Apr 12. Nature. 2023. PMID: 37046084 Free PMC article.
StocSum: stochastic summary statistics for whole genome sequencing studies.
Wang N, Yu B, Jun G, Qi Q, Durazo-Arvizu RA, Lindstrom S, Morrison AC, Kaplan RC, Boerwinkle E, Chen H. Wang N, et al. Among authors: boerwinkle e. bioRxiv [Preprint]. 2023 Apr 7:2023.04.06.535886. doi: 10.1101/2023.04.06.535886. bioRxiv. 2023. PMID: 37066281 Free PMC article. Preprint.
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.
Weinstock JS, Laurie CA, Broome JG, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Redline S, Cade BE, Gilliland FD, Chen Z, Gauderman WJ, Kumar R, Grammer L, Schleimer RP, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Weiss ST, Lasky-Su J, DeMeo DL, Palmer ND, Freedman BI, Bowden DW, Cho MH, Vasan RS, Johnson AD, Yanek LR, Becker LC, Kardia S, He J, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Manichaikul AW, Konkle BA, Johnsen JM, Wheeler MM, Custer BS, Duggirala R, Curran JE, Blangero J, Gui H, Xiao S, Williams LK, Meyers DA, Li X, Ortega V, McGarvey S, Gu CC, Chen YI, Lee WJ, Shoemaker MB, Darbar D, Roden D, Albert C, Kooperberg C, Desai P, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Mathias R, Natarajan P, Jaiswal S, Reiner AP, Bick AG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Weinstock JS, et al. Among authors: boerwinkle e. Sci Adv. 2023 Apr 28;9(17):eabm4945. doi: 10.1126/sciadv.abm4945. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126548 Free PMC article.
1,450 results