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Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
Safarova MS, Klee EW, Baudhuin LM, Winkler EM, Kluge ML, Bielinski SJ, Olson JE, Kullo IJ. Safarova MS, et al. Eur J Hum Genet. 2017 Apr;25(4):410-415. doi: 10.1038/ejhg.2016.193. Epub 2017 Feb 1. Eur J Hum Genet. 2017. PMID: 28145427 Free PMC article.
Knowledge of variant pathogenicity is key to implementing genomic medicine. We describe variability between expert reviewers in assigning pathogenicity to sequence variants in LDLR, the causal gene in the majority of cases of familial hypercholesterolemia. .. …
Knowledge of variant pathogenicity is key to implementing genomic medicine. We describe variability between expert revi …
Imputation and quality control steps for combining multiple genome-wide datasets.
Verma SS, de Andrade M, Tromp G, Kuivaniemi H, Pugh E, Namjou-Khales B, Mukherjee S, Jarvik GP, Kottyan LC, Burt A, Bradford Y, Armstrong GD, Derr K, Crawford DC, Haines JL, Li R, Crosslin D, Ritchie MD. Verma SS, et al. Front Genet. 2014 Dec 11;5:370. doi: 10.3389/fgene.2014.00370. eCollection 2014. Front Genet. 2014. PMID: 25566314 Free PMC article.
The electronic MEdical Records and GEnomics (eMERGE) network brings together DNA biobanks linked to electronic health records (EHRs) from multiple institutions. ...A number of challenges were encountered due to the complexity of using two differ …
The electronic MEdical Records and GEnomics (eMERGE) network brings together DNA biobanks linked to electronic healt …
Pharmacological risk factors associated with hospital readmission rates in a psychiatric cohort identified using prescriptome data mining.
Shameer K, Perez-Rodriguez MM, Bachar R, Li L, Johnson A, Johnson KW, Glicksberg BS, Smith MR, Readhead B, Scarpa J, Jebakaran J, Kovatch P, Lim S, Goodman W, Reich DL, Kasarskis A, Tatonetti NP, Dudley JT. Shameer K, et al. BMC Med Inform Decis Mak. 2018 Sep 14;18(Suppl 3):79. doi: 10.1186/s12911-018-0653-3. BMC Med Inform Decis Mak. 2018. PMID: 30255805 Free PMC article.
To implement individualized interventions, it is necessary to predict those individuals at highest risk for 30-day readmission. In this study, our aim was to conduct a data-driven investigation to find the pharmacological factors influencing 30-day all-cause, intra- and in …
To implement individualized interventions, it is necessary to predict those individuals at highest risk for 30-day readmission. In th …
Prototype of a Standards-Based EHR and Genetic Test Reporting Tool Coupled with HL7-Compliant Infobuttons.
Crump JK, Del Fiol G, Williams MS, Freimuth RR. Crump JK, et al. AMIA Jt Summits Transl Sci Proc. 2018 May 18;2017:330-339. eCollection 2018. AMIA Jt Summits Transl Sci Proc. 2018. PMID: 29888091 Free PMC article.
However, genetic information is often ambiguous and difficult to understand, and clinicians have reported low-self-efficacy in integrating genetics into their care routine. The Health Level Seven (HL7) Infobutton standard helps to integrate online knowledge resources withi …
However, genetic information is often ambiguous and difficult to understand, and clinicians have reported low-self-efficacy in integrating g …
Data model harmonization for the All Of Us Research Program: Transforming i2b2 data into the OMOP common data model.
Klann JG, Joss MAH, Embree K, Murphy SN. Klann JG, et al. PLoS One. 2019 Feb 19;14(2):e0212463. doi: 10.1371/journal.pone.0212463. eCollection 2019. PLoS One. 2019. PMID: 30779778 Free PMC article.
We previously demonstrated this ontology system can drive data reconfiguration, to transform data into new formats without site-specific programming. We previously implemented this on our 12-site Accessible Research Commons for Health (ARCH) network to transform i2b …
We previously demonstrated this ontology system can drive data reconfiguration, to transform data into new formats without site-specific pro …
Implementing Algorithm-Guided Warfarin Dosing in an Ethnically Diverse Patient Population Using Electronic Health Records and Preemptive CYP2C9 and VKORC1 Genetic Testing.
Obeng AO, Kaszemacher T, Abul-Husn NS, Gottesman O, Vega A, Waite E, Myers K, Cho J, Bottinger EP, Ellis SB, Scott SA. Obeng AO, et al. Clin Pharmacol Ther. 2016 Nov;100(5):427-430. doi: 10.1002/cpt.425. Epub 2016 Aug 18. Clin Pharmacol Ther. 2016. PMID: 27393744 Free PMC article.
To facilitate multiethnic algorithm-guided warfarin dosing using preemptive genetic testing, we developed a strategy that accounts for the complexity of race and leverages electronic health records for algorithm variables and deploying point-of-care do …
To facilitate multiethnic algorithm-guided warfarin dosing using preemptive genetic testing, we developed a strategy that accounts for the c …