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Page 1
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.
Ge T, Irvin MR, Patki A, Srinivasasainagendra V, Lin YF, Tiwari HK, Armstrong ND, Benoit B, Chen CY, Choi KW, Cimino JJ, Davis BH, Dikilitas O, Etheridge B, Feng YA, Gainer V, Huang H, Jarvik GP, Kachulis C, Kenny EE, Khan A, Kiryluk K, Kottyan L, Kullo IJ, Lange C, Lennon N, Leong A, Malolepsza E, Miles AD, Murphy S, Namjou B, Narayan R, O'Connor MJ, Pacheco JA, Perez E, Rasmussen-Torvik LJ, Rosenthal EA, Schaid D, Stamou M, Udler MS, Wei WQ, Weiss ST, Ng MCY, Smoller JW, Lebo MS, Meigs JB, Limdi NA, Karlson EW. Ge T, et al. Among authors: pacheco ja. Genome Med. 2022 Jun 29;14(1):70. doi: 10.1186/s13073-022-01074-2. Genome Med. 2022. PMID: 35765100 Free PMC article.
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Consortium… See abstract for full author list ➔ Linder JE, et al. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. Genet Med. 2023. PMID: 36621880 Free PMC article.
A metadata framework for computational phenotypes.
Spotnitz M, Acharya N, Cimino JJ, Murphy S, Namjou B, Crimmins N, Walunas T, Liu C, Crosslin D, Benoit B, Rosenthal E, Pacheco JA, Ostropolets A, Reyes Nieva H, Patterson JS, Richter LR, Callahan TJ, Elhussein A, Pang C, Kiryluk K, Nestor J, Khan A, Mohan S, Minty E, Chung W, Wei WQ, Natarajan K, Weng C. Spotnitz M, et al. Among authors: pacheco ja. JAMIA Open. 2023 May 9;6(2):ooad032. doi: 10.1093/jamiaopen/ooad032. eCollection 2023 Jul. JAMIA Open. 2023. PMID: 37181728 Free PMC article.
LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins.
Wei WQ, Li X, Feng Q, Kubo M, Kullo IJ, Peissig PL, Karlson EW, Jarvik GP, Lee MTM, Shang N, Larson EA, Edwards T, Shaffer CM, Mosley JD, Maeda S, Horikoshi M, Ritchie M, Williams MS, Larson EB, Crosslin DR, Bland HT, Pacheco JA, Rasmussen-Torvik LJ, Cronkite D, Hripcsak G, Cox NJ, Wilke RA, Stein CM, Rotter JI, Momozawa Y, Roden DM, Krauss RM, Denny JC. Wei WQ, et al. Among authors: pacheco ja. Circulation. 2018 Oct 23;138(17):1839-1849. doi: 10.1161/CIRCULATIONAHA.117.031356. Circulation. 2018. PMID: 29703846 Free PMC article.
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study.
Kho AN, Hayes MG, Rasmussen-Torvik L, Pacheco JA, Thompson WK, Armstrong LL, Denny JC, Peissig PL, Miller AW, Wei WQ, Bielinski SJ, Chute CG, Leibson CL, Jarvik GP, Crosslin DR, Carlson CS, Newton KM, Wolf WA, Chisholm RL, Lowe WL. Kho AN, et al. Among authors: pacheco ja. J Am Med Inform Assoc. 2012 Mar-Apr;19(2):212-8. doi: 10.1136/amiajnl-2011-000439. Epub 2011 Nov 19. J Am Med Inform Assoc. 2012. PMID: 22101970 Free PMC article.
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.
Namjou B, Lingren T, Huang Y, Parameswaran S, Cobb BL, Stanaway IB, Connolly JJ, Mentch FD, Benoit B, Niu X, Wei WQ, Carroll RJ, Pacheco JA, Harley ITW, Divanovic S, Carrell DS, Larson EB, Carey DJ, Verma S, Ritchie MD, Gharavi AG, Murphy S, Williams MS, Crosslin DR, Jarvik GP, Kullo IJ, Hakonarson H, Li R; eMERGE Network; Xanthakos SA, Harley JB. Namjou B, et al. Among authors: pacheco ja. BMC Med. 2019 Jul 17;17(1):135. doi: 10.1186/s12916-019-1364-z. BMC Med. 2019. PMID: 31311600 Free PMC article.
Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.
Rosenthal EA, Crosslin DR, Gordon AS, Carrell DS, Stanaway IB, Larson EB, Grafton J, Wei WQ, Denny JC, Feng QP, Shah AS, Sturm AC, Ritchie MD, Pacheco JA, Hakonarson H, Rasmussen-Torvik LJ, Connolly JJ, Fan X, Safarova M, Kullo IJ, Jarvik GP. Rosenthal EA, et al. Among authors: pacheco ja. BMC Med Genomics. 2021 Jan 6;14(1):11. doi: 10.1186/s12920-020-00854-2. BMC Med Genomics. 2021. PMID: 33407432 Free PMC article.
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups.
Dikilitas O, Schaid DJ, Kosel ML, Carroll RJ, Chute CG, Denny JA, Fedotov A, Feng Q, Hakonarson H, Jarvik GP, Lee MTM, Pacheco JA, Rowley R, Sleiman PM, Stein CM, Sturm AC, Wei WQ, Wiesner GL, Williams MS, Zhang Y, Manolio TA, Kullo IJ. Dikilitas O, et al. Among authors: pacheco ja. Am J Hum Genet. 2020 May 7;106(5):707-716. doi: 10.1016/j.ajhg.2020.04.002. Am J Hum Genet. 2020. PMID: 32386537 Free PMC article.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
862 results