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Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD, Gudnason V, Eiriksdottir G, Garcia ME, Launer LJ, Nalls MA, Clark JM, Mitchell BD, Shuldiner AR, Butler JL, Tomas M, Hoffmann U, Hwang SJ, Massaro JM, O'Donnell CJ, Sahani DV, Salomaa V, Schadt EE, Schwartz SM, Siscovick DS; NASH CRN; GIANT Consortium; MAGIC Investigators; Voight BF, Carr JJ, Feitosa MF, Harris TB, Fox CS, Smith AV, Kao WH, Hirschhorn JN, Borecki IB; GOLD Consortium. Speliotes EK, et al. PLoS Genet. 2011 Mar;7(3):e1001324. doi: 10.1371/journal.pgen.1001324. Epub 2011 Mar 10. PLoS Genet. 2011. PMID: 21423719 Free PMC article.
Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project.
Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS, Schellenberg GD, Destefano AL, Haines JL, Peloso GM. Lee WP, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2023 Sep 2:2023.09.01.23294953. doi: 10.1101/2023.09.01.23294953. medRxiv. 2023. Update in: Alzheimers Dement. 2024 Dec;20(12):8470-8483. doi: 10.1002/alz.14283 PMID: 37693521 Free PMC article. Updated. Preprint.
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).
Wang D, Scalici A, Wang Y, Lin H, Pitsillides A, Heard-Costa N, Cruchaga C, Ziegemeier E, Bis JC, Fornage M, Boerwinkle E, De Jager PL, Wijsman E, Dupuis J, Renton AE, Seshadri S, Goate AM; Alzheimer's Disease Sequencing Project; DeStefano AL, Peloso GM. Wang D, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Sep 23:2023.10.24.23297227. doi: 10.1101/2023.10.24.23297227. medRxiv. 2024. PMID: 37961373 Free PMC article. Preprint.
Plasma proteomic comparisons change as coverage expands for SomaLogic and Olink.
Rooney MR, Chen J, Ballantyne CM, Hoogeveen RC, Boerwinkle E, Yu B, Walker KA, Schlosser P, Selvin E, Chatterjee N, Couper D, Grams ME, Coresh J. Rooney MR, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Jul 12:2024.07.11.24310161. doi: 10.1101/2024.07.11.24310161. medRxiv. 2024. PMID: 39040172 Free PMC article. Preprint.
RBD amplicon sequencing of wastewater reveals patterns of variant emergence and evolution.
Chen X, Balliew J, Bauer CX, Deegan J, Gitter A, Hanson BM, Maresso AW, Tisza MJ, Troisi CL, Rios J, Mena KD, Boerwinkle E, Wu F. Chen X, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Jul 12:2024.07.12.24310301. doi: 10.1101/2024.07.12.24310301. medRxiv. 2024. Update in: J Infect. 2024 Nov;89(5):106284. doi: 10.1016/j.jinf.2024.106284 PMID: 39040200 Free PMC article. Updated. Preprint.
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A, Klonowski J, Yuan B, Coveler KJ, Dardas Z, Egab I, Xu J, Lupo PJ, Agopian AJ, Kostka D, Lo CW, Yi SS, Gelb BD, Seidman CE, Boerwinkle E, Posey JE, Gibbs RA, Lupski JR, Morris SA, Coban-Akdemir Z. Rai A, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Nov 21:2024.11.19.24317385. doi: 10.1101/2024.11.19.24317385. medRxiv. 2024. PMID: 39606420 Free PMC article. Preprint.
General Kernel Machine Methods for Multi-Omics Integration and Genome-Wide Association Testing With Related Individuals.
Little A, Zhao N, Mikhaylova A, Zhang A, Ling W, Thibord F, Johnson AD, Raffield LM, Curran JE, Blangero J, O'Connell JR, Xu H, Rotter JI, Rich SS, Rice KM, Chen MH, Reiner A, Kooperberg C, Vu T, Hou L, Fornage M, Loos RJF, Kenny E, Mathias R, Becker L, Smith AV, Boerwinkle E, Yu B, Thornton T, Wu MC. Little A, et al. Among authors: boerwinkle e. Genet Epidemiol. 2025 Jan;49(1):e22610. doi: 10.1002/gepi.22610. Genet Epidemiol. 2025. PMID: 39812506
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S; Regeneron Genetics Center; Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B; NHLBI Trans-Omics for Precision Medicine Consortium; Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. Among authors: boerwinkle e. Am J Hum Genet. 2025 Jan 6:S0002-9297(24)00456-7. doi: 10.1016/j.ajhg.2024.12.014. Online ahead of print. Am J Hum Genet. 2025. PMID: 39809269 Free article.
The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup.
Huang YJ, Kurniansyah N, Goodman MO, Spitzer BW, Wang J, Stilp A, Laurie C, de Vries PS, Chen H, Min YI, Sims M, Peloso GM, Guo X, Bis JC, Brody JA, Raffield LM, Smith JA, Zhao W, Rotter JI, Rich SS, Redline S, Fornage M, Kaplan R, Franceschini N, Levy D, Morrison AC, Boerwinkle E, Smith NL, Kooperberg C, Psaty BM, Zöllner S; Trans-Omics in Precision Medicine Consortium; Sofer T. Huang YJ, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Dec 20:2024.03.05.24303738. doi: 10.1101/2024.03.05.24303738. medRxiv. 2024. PMID: 39763564 Free PMC article. Preprint.
1,455 results