Search Results - "FREIMUTH, R. R"

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) by Caudle, Kelly E., Dunnenberger, Henry M., Freimuth, Robert R., Peterson, Josh F., Burlison, Jonathan D., Whirl-Carrillo, Michelle, Scott, Stuart A., Rehm, Heidi L., Williams, Marc S., Klein, Teri E., Relling, Mary V., Hoffman, James M.

“…Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of…”
Get full text

Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process by Caudle, Kelly E, Klein, Teri E, Hoffman, James M, Muller, Daniel J, Whirl-Carrillo, Michelle, Gong, Li, McDonagh, Ellen M, Sangkuhl, Katrin, Thorn, Caroline F, Schwab, Matthias, Agundez, Jose A G, Freimuth, Robert R, Huser, Vojtech, Lee, Ming Ta Michael, Iwuchukwu, Otito F, Crews, Kristine R, Scott, Stuart A, Wadelius, Mia, Swen, Jesse J, Tyndale, Rachel F, Stein, C Michael, Roden, Dan, Relling, Mary V, Williams, Marc S, Johnson, Samuel G

“…The Clinical Pharmacogenetics Implementation Consortium (CPIC) publishes genotype-based drug guidelines to help clinicians understand how available genetic…”
Get more information

The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems by Luzum, JA, Pakyz, RE, Elsey, AR, Haidar, CE, Peterson, JF, Whirl‐Carrillo, M, Handelman, SK, Palmer, K, Pulley, JM, Beller, M, Schildcrout, JS, Field, JR, Weitzel, KW, Cooper‐DeHoff, RM, Cavallari, LH, O'Donnell, PH, Altman, RB, Pereira, N, Ratain, MJ, Roden, DM, Embi, PJ, Sadee, W, Klein, TE, Johnson, JA, Relling, MV, Wang, L, Weinshilboum, RM, Shuldiner, AR, Freimuth, RR

“…Numerous pharmacogenetic clinical guidelines and recommendations have been published, but barriers have hindered the clinical implementation of…”
Get full text

The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Overcoming Challenges of Real-World Implementation by Shuldiner, A R, Relling, M V, Peterson, J F, Hicks, K, Freimuth, R R, Sadee, W, Pereira, N L, Roden, D M, Johnson, J A, Klein, T E

“…The pace of discovery of potentially actionable pharmacogenetic variants has increased dramatically in recent years. However, the implementation of this new…”
Get full text

Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 Update by Martin, M A, Hoffman, J M, Freimuth, R R, Klein, T E, Dong, B J, Pirmohamed, M, Hicks, J K, Wilkinson, M R, Haas, D W, Kroetz, D L

“…The Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for HLA‐B Genotype and Abacavir Dosing were originally published in April 2012. We…”
Get full text

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting by Kalman, LV, Agúndez, JAG, Appell, M Lindqvist, Black, JL, Bell, GC, Boukouvala, S, Bruckner, C, Bruford, E, Caudle, K, Coulthard, SA, Daly, AK, Tredici, AL Del, den Dunnen, JT, Drozda, K, Everts, RE, Flockhart, D, Freimuth, RR, Gaedigk, A, Hachad, H, Hartshorne, T, Ingelman-Sundberg, M, Klein, TE, Lauschke, VM, Maglott, DR, McLeod, HL, McMillin, GA, Meyer, UA, Müller, DJ, Nickerson, DA, Oetting, WS, Pacanowski, M, Pratt, VM, Relling, MV, Roberts, A, Rubinstein, WS, Sangkuhl, K, Schwab, M, Scott, SA, Sim, SC, Thirumaran, RK, Toji, LH, Tyndale, RF, van Schaik, RHN, Whirl-Carrillo, M, Yeo, KTJ, Zanger, UM

“…This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic…”
Get full text

Development and use of active clinical decision support for preemptive pharmacogenomics by Bell, Gillian C, Crews, Kristine R, Wilkinson, Mark R, Haidar, Cyrine E, Hicks, J Kevin, Baker, Donald K, Kornegay, Nancy M, Yang, Wenjian, Cross, Shane J, Howard, Scott C, Freimuth, Robert R, Evans, William E, Broeckel, Ulrich, Relling, Mary V, Hoffman, James M

“…Active clinical decision support (CDS) delivered through an electronic health record (EHR) facilitates gene-based drug prescribing and other applications of…”
Get full text

Participant choices for return of genomic results in the eMERGE Network by Hoell, Christin, Wynn, Julia, Rasmussen, Luke V., Marsolo, Keith, Aufox, Sharon A., Chung, Wendy K., Connolly, John J., Freimuth, Robert R., Kochan, David, Hakonarson, Hakon, Harr, Margaret, Holm, Ingrid A., Kullo, Iftikhar J., Lammers, Philip E., Leppig, Kathleen A., Leslie, Nancy D., Myers, Melanie F., Sharp, Richard R., Smith, Maureen E., Prows, Cynthia A.

“…Purpose Secondary findings are typically offered in an all or none fashion when sequencing is used for clinical purposes. This study aims to describe the…”
Get full text

SNP interaction detection with Random Forests in high-dimensional genetic data by Winham, Stacey J, Colby, Colin L, Freimuth, Robert R, Wang, Xin, de Andrade, Mariza, Huebner, Marianne, Biernacka, Joanna M

“…Identifying variants associated with complex human traits in high-dimensional data is a central goal of genome-wide association studies. However, complicated…”
Get full text

Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network by Williams, Marc S, Taylor, Casey Overby, Walton, Nephi A, Goehringer, Scott R, Aronson, Samuel, Freimuth, Robert R, Rasmussen, Luke V, Hall, Eric S, Prows, Cynthia A, Chung, Wendy K, Fedotov, Alexander, Nestor, Jordan, Weng, Chunhua, Rowley, Robb K, Wiesner, Georgia L, Jarvik, Gail P, Del Fiol, Guilherme

“…Genomic knowledge is being translated into clinical care. To fully realize the value, it is critical to place credible information in the hands of clinicians…”
Get full text

Implementing Genomic Clinical Decision Support for Drug‐Based Precision Medicine by Freimuth, RR, Formea, CM, Hoffman, JM, Matey, E, Peterson, JF, Boyce, RD

“…The explosive growth of patient‐specific genomic information relevant to drug therapy will continue to be a defining characteristic of biomedical research. To…”
Get full text

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification by Wagner, Alex H., Babb, Lawrence, Alterovitz, Gil, Baudis, Michael, Brush, Matthew, Cameron, Daniel L., Cline, Melissa, Griffith, Malachi, Griffith, Obi L., Hunt, Sarah E., Kreda, David, Lee, Jennifer M., Li, Stephanie, Lopez, Javier, Moyer, Eric, Nelson, Tristan, Patel, Ronak Y., Riehle, Kevin, Robinson, Peter N., Rynearson, Shawn, Schuilenburg, Helen, Tsukanov, Kirill, Walsh, Brian, Konopko, Melissa, Rehm, Heidi L., Yates, Andrew D., Freimuth, Robert R., Hart, Reece K.

“…Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report…”
Get full text

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer by Wagner, Alex H., Walsh, Brian, Mayfield, Georgia, Tamborero, David, Sonkin, Dmitriy, Krysiak, Kilannin, Deu-Pons, Jordi, Duren, Ryan P., Gao, Jianjiong, McMurry, Julie, Patterson, Sara, del Vecchio Fitz, Catherine, Pitel, Beth A., Sezerman, Ozman U., Ellrott, Kyle, Warner, Jeremy L., Rieke, Damian T., Aittokallio, Tero, Cerami, Ethan, Ritter, Deborah I., Schriml, Lynn M., Freimuth, Robert R., Haendel, Melissa, Raca, Gordana, Madhavan, Subha, Baudis, Michael, Beckmann, Jacques S., Dienstmann, Rodrigo, Chakravarty, Debyani, Li, Xuan Shirley, Mockus, Susan, Elemento, Olivier, Schultz, Nikolaus, Lopez-Bigas, Nuria, Lawler, Mark, Goecks, Jeremy, Griffith, Malachi, Griffith, Obi L., Margolin, Adam A.

“…Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We…”
Get full text

Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions by Yu, Jingzhi, Pacheco, Jennifer A, Ghosh, Anika S, Luo, Yuan, Weng, Chunhua, Shang, Ning, Benoit, Barbara, Carrell, David S, Carroll, Robert J, Dikilitas, Ozan, Freimuth, Robert R, Gainer, Vivian S, Hakonarson, Hakon, Hripcsak, George, Kullo, Iftikhar J, Mentch, Frank, Murphy, Shawn N, Peissig, Peggy L, Ramirez, Andrea H, Walton, Nephi, Wei, Wei-Qi, Rasmussen, Luke V

“…Currently, one of the commonly used methods for disseminating electronic health record (EHR)-based phenotype algorithms is providing a narrative description of…”
Get full text

Preemptive Genotyping for Personalized Medicine: Design of the Right Drug, Right Dose, Right Time—Using Genomic Data to Individualize Treatment Protocol by Bielinski, Suzette J., PhD, MEd, Olson, Janet E., PhD, Pathak, Jyotishman, PhD, Weinshilboum, Richard M., MD, Wang, Liewei, MD, PhD, Lyke, Kelly J, Ryu, Euijung, PhD, Targonski, Paul V., MD, PhD, Van Norstrand, Michael D., MD, PhD, Hathcock, Matthew A., MS, Takahashi, Paul Y., MD, McCormick, Jennifer B., PhD, MPP, Johnson, Kiley J., MS, CGC, Maschke, Karen J., PhD, Rohrer Vitek, Carolyn R., MS, Ellingson, Marissa S., MS, CGC, Wieben, Eric D., PhD, Farrugia, Gianrico, MD, Morrisette, Jody A., MBA, Kruckeberg, Keri J., BA, Bruflat, Jamie K., MS, Peterson, Lisa M., BS, Blommel, Joseph H., MS, Skierka, Jennifer M., BS, Ferber, Matthew J., PhD, Black, John L., MD, Baudhuin, Linnea M., PhD, Klee, Eric W., PhD, Ross, Jason L., MA, Veldhuizen, Tamra L., BS, Schultz, Cloann G., MS, Caraballo, Pedro J., MD, Freimuth, Robert R., PhD, Chute, Christopher G., MD, DrPH, Kullo, Iftikhar J., MD

“…Abstract Objective To report the design and implementation of the Right Drug, Right Dose, Right Time—Using Genomic Data to Individualize Treatment protocol…”
Get full text

Human cytosolic sulfotransferase database mining: identification of seven novel genes and pseudogenes by Freimuth, R R, Wiepert, M, Chute, C G, Wieben, E D, Weinshilboum, R M

“…A total of 10 SULT genes are presently known to be expressed in human tissues. We performed a comprehensive genome-wide search for novel SULT genes using two…”
Get full text

Pharmacogenomic assessment of carboxylesterases 1 and 2 by Marsh, Sharon, Xiao, Ming, Yu, Jinsheng, Ahluwalia, Ranjeet, Minton, Matthew, Freimuth, Robert R., Kwok, Pui-Yan, McLeod, Howard L.

“…Human carboxylesterases 1 and 2 (CES1 and CES2) catalyze the hydrolysis of many exogenous compounds. Alterations in carboxylesterase sequences could lead to…”
Get full text

Representing NIH Genetic Test Registry Data in the FHIR Genomic Study Resource by Khalifa, Aly, Freimuth, Robert R

“…The National Institute of Health (NIH) Genetic Testing Registry (GTR) provides a variety of information about genetic tests such as relevant methods,…”
Get more information

Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine by Zhao, Yiqing, Brush, Matthew, Wang, Chen, Wagner, Alex H, Liu, Hongfang, Freimuth, Robert R

“…Despite the increasing evidence of utility of genomic medicine in clinical practice, systematically integrating genomic medicine information and knowledge into…”
Get full text

Recommendations for the safe, effective use of adaptive CDS in the US healthcare system: an AMIA position paper by Petersen, Carolyn, Smith, Jeffery, Freimuth, Robert R, Goodman, Kenneth W, Jackson, Gretchen Purcell, Kannry, Joseph, Liu, Hongfang, Madhavan, Subha, Sittig, Dean F, Wright, Adam

“…The development and implementation of clinical decision support (CDS) that trains itself and adapts its algorithms based on new data-here referred to as…”
Get full text