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A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and electronic health record environments.
Pacheco JA, Rasmussen LV, Kiefer RC, Campion TR, Speltz P, Carroll RJ, Stallings SC, Mo H, Ahuja M, Jiang G, LaRose ER, Peissig PL, Shang N, Benoit B, Gainer VS, Borthwick K, Jackson KL, Sharma A, Wu AY, Kho AN, Roden DM, Pathak J, Denny JC, Thompson WK. Pacheco JA, et al. Among authors: benoit b. J Am Med Inform Assoc. 2018 Nov 1;25(11):1540-1546. doi: 10.1093/jamia/ocy101. J Am Med Inform Assoc. 2018. PMID: 30124903 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: benoit b. BMC Med. 2019 Jul 17;17(1):135. doi: 10.1186/s12916-019-1364-z. BMC Med. 2019. PMID: 31311600 Free PMC article.
Facilitating phenotype transfer using a common data model.
Hripcsak G, Shang N, Peissig PL, Rasmussen LV, Liu C, Benoit B, Carroll RJ, Carrell DS, Denny JC, Dikilitas O, Gainer VS, Howell KM, Klann JG, Kullo IJ, Lingren T, Mentch FD, Murphy SN, Natarajan K, Pacheco JA, Wei WQ, Wiley K, Weng C. Hripcsak G, et al. Among authors: benoit b. J Biomed Inform. 2019 Aug;96:103253. doi: 10.1016/j.jbi.2019.103253. Epub 2019 Jul 17. J Biomed Inform. 2019. PMID: 31325501 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network.
Shang N, Liu C, Rasmussen LV, Ta CN, Caroll RJ, Benoit B, Lingren T, Dikilitas O, Mentch FD, Carrell DS, Wei WQ, Luo Y, Gainer VS, Kullo IJ, Pacheco JA, Hakonarson H, Walunas TL, Denny JC, Wiley K, Murphy SN, Hripcsak G, Weng C. Shang N, et al. Among authors: benoit b. J Biomed Inform. 2019 Nov;99:103293. doi: 10.1016/j.jbi.2019.103293. Epub 2019 Sep 19. J Biomed Inform. 2019. PMID: 31542521 Free PMC article.
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Namjou B, Stanaway IB, Lingren T, Mentch FD, Benoit B, Dikilitas O, Niu X, Shang N, Shoemaker AH, Carey DJ, Mirshahi T, Singh R, Nestor JG, Hakonarson H, Denny JC, Crosslin DR, Jarvik GP, Kullo IJ, Williams MS; eMERGE Network; Harley JB. Namjou B, et al. Among authors: benoit b. Int J Obes (Lond). 2021 Jan;45(1):155-169. doi: 10.1038/s41366-020-00675-4. Epub 2020 Sep 20. Int J Obes (Lond). 2021. PMID: 32952152 Free PMC article.
Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.
Shang N, Khan A, Polubriaginof F, Zanoni F, Mehl K, Fasel D, Drawz PE, Carrol RJ, Denny JC, Hathcock MA, Arruda-Olson AM, Peissig PL, Dart RA, Brilliant MH, Larson EB, Carrell DS, Pendergrass S, Verma SS, Ritchie MD, Benoit B, Gainer VS, Karlson EW, Gordon AS, Jarvik GP, Stanaway IB, Crosslin DR, Mohan S, Ionita-Laza I, Tatonetti NP, Gharavi AG, Hripcsak G, Weng C, Kiryluk K. Shang N, et al. Among authors: benoit b. NPJ Digit Med. 2021 Apr 13;4(1):70. doi: 10.1038/s41746-021-00428-1. NPJ Digit Med. 2021. PMID: 33850243 Free PMC article.
Development of a Coronavirus Disease 2019 (COVID-19) Application Ontology for the Accrual to Clinical Trials (ACT) network.
Visweswaran S, Samayamuthu MJ, Morris M, Weber GM, MacFadden D, Trevvett P, Klann JG, Gainer VS, Benoit B, Murphy SN, Patel L, Mirkovic N, Borovskiy Y, Johnson RD, Wyatt MC, Wang AY, Follett RW, Chau N, Zhu W, Abajian M, Chuang A, Bahroos N, Reeder P, Xie D, Cai J, Sendro ER, Toto RD, Firestein GS, Nadler LM, Reis SE. Visweswaran S, et al. Among authors: benoit b. JAMIA Open. 2021 Apr 19;4(2):ooab036. doi: 10.1093/jamiaopen/ooab036. eCollection 2021 Apr. JAMIA Open. 2021. PMID: 34113801 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
The Mass General Brigham Biobank Portal: an i2b2-based data repository linking disparate and high-dimensional patient data to support multimodal analytics.
Castro VM, Gainer V, Wattanasin N, Benoit B, Cagan A, Ghosh B, Goryachev S, Metta R, Park H, Wang D, Mendis M, Rees M, Herrick C, Murphy SN. Castro VM, et al. Among authors: benoit b. J Am Med Inform Assoc. 2022 Mar 15;29(4):643-651. doi: 10.1093/jamia/ocab264. J Am Med Inform Assoc. 2022. PMID: 34849976 Free PMC article.
298 results