Search Results - "Benoit, Barbara"

GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network by Namjou, Bahram, Lingren, Todd, Huang, Yongbo, Parameswaran, Sreeja, Cobb, Beth L, Stanaway, Ian B, Connolly, John J, Mentch, Frank D, Benoit, Barbara, Niu, Xinnan, Wei, Wei-Qi, Carroll, Robert J, Pacheco, Jennifer A, Harley, Isaac T W, Divanovic, Senad, Carrell, David S, Larson, Eric B, Carey, David J, Verma, Shefali, Ritchie, Marylyn D, Gharavi, Ali G, Murphy, Shawn, Williams, Marc S, Crosslin, David R, Jarvik, Gail P, Kullo, Iftikhar J, Hakonarson, Hakon, Li, Rongling, Xanthakos, Stavra A, Harley, John B

“…Non-alcoholic fatty liver disease (NAFLD) is a common chronic liver illness with a genetically heterogeneous background that can be accompanied by considerable…”
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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…”
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Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies by Shang, Ning, Khan, Atlas, Polubriaginof, Fernanda, Zanoni, Francesca, Mehl, Karla, Fasel, David, Drawz, Paul E., Carrol, Robert J., Denny, Joshua C., Hathcock, Matthew A., Arruda-Olson, Adelaide M., Peissig, Peggy L., Dart, Richard A., Brilliant, Murray H., Larson, Eric B., Carrell, David S., Pendergrass, Sarah, Verma, Shefali Setia, Ritchie, Marylyn D., Benoit, Barbara, Gainer, Vivian S., Karlson, Elizabeth W., Gordon, Adam S., Jarvik, Gail P., Stanaway, Ian B., Crosslin, David R., Mohan, Sumit, Ionita-Laza, Iuliana, Tatonetti, Nicholas P., Gharavi, Ali G., Hripcsak, George, Weng, Chunhua, Kiryluk, Krzysztof

“…Chronic Kidney Disease (CKD) represents a slowly progressive disorder that is typically silent until late stages, but early intervention can significantly…”
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The Mass General Brigham Biobank Portal: an i2b2-based data repository linking disparate and high-dimensional patient data to support multimodal analytics by Castro, Victor M, Gainer, Vivian, Wattanasin, Nich, Benoit, Barbara, Cagan, Andrew, Ghosh, Bhaswati, Goryachev, Sergey, Metta, Reeta, Park, Heekyong, Wang, David, Mendis, Michael, Rees, Martin, Herrick, Christopher, Murphy, Shawn N

“…Abstract Objective Integrating and harmonizing disparate patient data sources into one consolidated data portal enables researchers to conduct analysis…”
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Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network by Venner, Eric, Muzny, Donna M., Abrams, Debra, Albertson-Junkans, Ladia, Ames, Darren C., Aronson, Samuel, Babb, Lawrence J., Balasubramanian, Adithya, Bastarache, Lisa, Behr, Meckenzie, Blout, Carrie, Bowser, Mark, Brilliant, Murray, Brodeur, Wendy, Caraballo, Pedro, Castro, Victor, Chisholm, Rex L., Chung, Wendy, Chute, Christopher G., City, Brittany, Connolly, John J., Crane, Paul, Crew, Katherine, De Andrade, Mariza, Denson, Shawn, Denny, Josh, DeSmet, Tim, Dikilitas, Ozan, Fullerton, Stephanie M., Gabriel, Stacey, Gainer, Vivian, Gharavi, Ali, Glazer, Andrew M., Goehringer, Jessica, Gordon, Adam S., Graham, Chet, Dayal, Jyoti, Hakonarson, Hakon, Harden, Maegan V., Harr, Margaret, Hayes, M. Geoffrey, Henrikson, Nora, Howell, Kayla M., Jiang, Yunyun, Joo, Yoonjung Yoonie, Justice, Anne E., Kalla, Sara E., Kalra, Divya, Kelly, Melissa A., Key, Dustin, Kiryluk, Krzysztof, Kullo, Iftikhar J., Larson, Eric B., Lin, Chiao-Feng, Linder, Jodell, Macbeth, Alyssa, Dinsmore, Michael J., Dodge, Sheila, Fasel, David, Fedotov, Alex, Feng, Qiping, McGowan, Michelle L., Meldrim, Jim, Mosley, Jonathan, Muniz, Jesse, Murdock, David R., Murugan, Mullai, Myers, Melanie F., Namjou, Bahram, Ni, Yizhao, Obeng, Aniwaa Owusu, Taylor, Casey Overby, Peterson, Josh F., Pratap, Siddharth, Prows, Cynthia A., Ralston, James D., Ramaprasan, Arvind, Rasmussen-Torvik, Laura, Schaid, Dan, Sengupta, Soumitra, Singh, Rajbir, Sleiman, Patrick M.A., Smoller, Jordan W., Stanaway, Ian B., Stroud, Mary, Tolwinski, Kasia, Van Driest, Sara L., Veenstra, David, Vicente, Gina, Wagner, Michael, Walunas, Theresa, Wells, Quinn, White, Peter S., Wiley, Ken L., Wilson, Michael W., Woolf, Betty, Yi, Victoria, Zhang, Ge, Zhang, Lan, Gibbs, Richard A.

“…The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The…”
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Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants by Namjou, Bahram, Stanaway, Ian B., Lingren, Todd, Mentch, Frank D., Benoit, Barbara, Dikilitas, Ozan, Niu, Xinnan, Shang, Ning, Shoemaker, Ashley H., Carey, David J., Mirshahi, Tooraj, Singh, Rajbir, Nestor, Jordan G., Hakonarson, Hakon, Denny, Joshua C., Crosslin, David R., Jarvik, Gail P., Kullo, Iftikhar J., Williams, Marc S., Harley, John B.

“…Background/Objectives Melanocortin-4 receptor (MC4R) plays an essential role in food intake and energy homeostasis. More than 170 MC4R variants have been…”
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Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations by Ge, Tian, Irvin, Marguerite R, Patki, Amit, Srinivasasainagendra, Vinodh, Lin, Yen-Feng, Tiwari, Hemant K, Armstrong, Nicole D, Benoit, Barbara, Chen, Chia-Yen, Choi, Karmel W, Cimino, James J, Davis, Brittney H, Dikilitas, Ozan, Etheridge, Bethany, Feng, Yen-Chen Anne, Gainer, Vivian, Huang, Hailiang, Jarvik, Gail P, Kachulis, Christopher, Kenny, Eimear E, Khan, Atlas, Kiryluk, Krzysztof, Kottyan, Leah, Kullo, Iftikhar J, Lange, Christoph, Lennon, Niall, Leong, Aaron, Malolepsza, Edyta, Miles, Ayme D, Murphy, Shawn, Namjou, Bahram, Narayan, Renuka, O'Connor, Mark J, Pacheco, Jennifer A, Perez, Emma, Rasmussen-Torvik, Laura J, Rosenthal, Elisabeth A, Schaid, Daniel, Stamou, Maria, Udler, Miriam S, Wei, Wei-Qi, Weiss, Scott T, Ng, Maggie C Y, Smoller, Jordan W, Lebo, Matthew S, Meigs, James B, Limdi, Nita A, Karlson, Elizabeth W

“…Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic and environmental risk factors that disproportionately afflicts communities of color…”
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Facilitating phenotype transfer using a common data model by Hripcsak, George, Shang, Ning, Peissig, Peggy L., Rasmussen, Luke V., Liu, Cong, Benoit, Barbara, Carroll, Robert J., Carrell, David S., Denny, Joshua C., Dikilitas, Ozan, Gainer, Vivian S., Howell, Kayla Marie, Klann, Jeffrey G., Kullo, Iftikhar J., Lingren, Todd, Mentch, Frank D., Murphy, Shawn N., Natarajan, Karthik, Pacheco, Jennifer A., Wei, Wei-Qi, Wiley, Ken, Weng, Chunhua

“…[Display omitted] •Implementing phenotypes over a network of electronic health record databases is labor intensive and error prone.•The eMERGE network was able…”
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A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and electronic health record environments by Pacheco, Jennifer A, Rasmussen, Luke V, Kiefer, Richard C, Campion, Thomas R, Speltz, Peter, Carroll, Robert J, Stallings, Sarah C, Mo, Huan, Ahuja, Monika, Jiang, Guoqian, LaRose, Eric R, Peissig, Peggy L, Shang, Ning, Benoit, Barbara, Gainer, Vivian S, Borthwick, Kenneth, Jackson, Kathryn L, Sharma, Ambrish, Wu, Andy Yizhou, Kho, Abel N, Roden, Dan M, Pathak, Jyotishman, Denny, Joshua C, Thompson, William K

“…Electronic health record (EHR) algorithms for defining patient cohorts are commonly shared as free-text descriptions that require human intervention both to…”
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Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network by Shang, Ning, Liu, Cong, Rasmussen, Luke V., Ta, Casey N., Caroll, Robert J., Benoit, Barbara, Lingren, Todd, Dikilitas, Ozan, Mentch, Frank D., Carrell, David S., Wei, Wei-Qi, Luo, Yuan, Gainer, Vivian S., Kullo, Iftikhar J., Pacheco, Jennifer A., Hakonarson, Hakon, Walunas, Theresa L., Denny, Joshua C., Wiley, Ken, Murphy, Shawn N., Hripcsak, George, Weng, Chunhua

“…[Display omitted] •Developed a novel method to quantify the portability of phenotype algorithms•Uncovered substantial phenotype implementation efforts across…”
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A metadata framework for computational phenotypes by Spotnitz, Matthew, Acharya, Nripendra, Cimino, James J, Murphy, Shawn, Namjou, Bahram, Crimmins, Nancy, Walunas, Theresa, Liu, Cong, Crosslin, David, Benoit, Barbara, Rosenthal, Elisabeth, Pacheco, Jennifer A, Ostropolets, Anna, Reyes Nieva, Harry, Patterson, Jason S, Richter, Lauren R, Callahan, Tiffany J, Elhussein, Ahmed, Pang, Chao, Kiryluk, Krzysztof, Nestor, Jordan, Khan, Atlas, Mohan, Sumit, Minty, Evan, Chung, Wendy, Wei, Wei-Qi, Natarajan, Karthik, Weng, Chunhua

“…Abstract With the burgeoning development of computational phenotypes, it is increasingly difficult to identify the right phenotype for the right tasks. This…”
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Development of a Coronavirus Disease 2019 (COVID-19) Application Ontology for the Accrual to Clinical Trials (ACT) network by Visweswaran, Shyam, Samayamuthu, Malarkodi J, Morris, Michele, Weber, Griffin M, MacFadden, Douglas, Trevvett, Philip, Klann, Jeffrey G, Gainer, Vivian S, Benoit, Barbara, Murphy, Shawn N, Patel, Lav, Mirkovic, Nebojsa, Borovskiy, Yuliya, Johnson, Robert D, Wyatt, Matthew C, Wang, Amy Y, Follett, Robert W, Chau, Ngan, Zhu, Wenhong, Abajian, Mark, Chuang, Amy, Bahroos, Neil, Reeder, Phillip, Xie, Donglu, Cai, Jennifer, Sendro, Elaina R, Toto, Robert D, Firestein, Gary S, Nadler, Lee M, Reis, Steven E

“…Clinical data networks that leverage large volumes of data in electronic health records (EHRs) are significant resources for research on coronavirus disease…”
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Development of a Coronavirus Disease 2019 network by Visweswaran, Shyam, Samayamuthu, Malarkodi J, Morris, Michele, Weber, Griffin M, MacFadden, Douglas, Trevvett, Philip, Klann, Jeffrey G, Gainer, Vivian S, Benoit, Barbara, Murphy, Shawn N, Patel, Lav, Mirkovic, Nebojsa, Borovskiy, Yuliya, Johnson, Robert D, Wyatt, Matthew C, Wang, Amy Y, Follett, Robert W, Chau, Ngan, Zhu, Wenhong, Abajian, Mark, Chuang, Amy, Bahroos, Neil, Reeder, Phillip, Xie, Donglu, Cai, Jennifer, Sendro, Elaina R, Toto, Robert D, Firestein, Gary S, Nadler, Lee M, Reis, Steven E

“…Clinical data networks that leverage large volumes of data in electronic health records (EHRs) are significant resources for research on coronavirus disease…”
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