PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability
Kirby, Jacqueline C, Speltz, Peter, Rasmussen, Luke V, Basford, Melissa, Gottesman, Omri, Peissig, Peggy L, Pacheco, Jennifer A, Tromp, Gerard, Pathak, Jyotishman, Carrell, David S, Ellis, Stephen B, Lingren, Todd, Thompson, Will K, Savova, Guergana, Haines, Jonathan, Roden, Dan M, Harris, Paul A, Denny, Joshua C
Published in Journal of the American Medical Informatics Association : JAMIA (01.11.2016)
Published in Journal of the American Medical Informatics Association : JAMIA (01.11.2016)
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Journal Article
The phenotypic legacy of admixture between modern humans and Neandertals
Simonti, Corinne N., Vernot, Benjamin, Bastarache, Lisa, Bottinger, Erwin, Carrell, David S., Chisholm, Rex L., Crosslin, David R., Hebbring, Scott J., Jarvik, Gail P., Kullo, Iftikhar J., Li, Rongling, Pathak, Jyotishman, Ritchie, Marylyn D., Roden, Dan M., Verma, Shefali S., Tromp, Gerard, Prato, Jeffrey D., Bush, William S., Akey, Joshua M., Denny, Joshua C., Capra, John A.
Published in Science (American Association for the Advancement of Science) (12.02.2016)
Published in Science (American Association for the Advancement of Science) (12.02.2016)
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Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US
Sanderson, Saskia C., Brothers, Kyle B., Mercaldo, Nathaniel D., Clayton, Ellen Wright, Antommaria, Armand H. Matheny, Aufox, Sharon A., Brilliant, Murray H., Campos, Diego, Carrell, David S., Connolly, John, Conway, Pat, Fullerton, Stephanie M., Garrison, Nanibaa’ A., Horowitz, Carol R., Jarvik, Gail P., Kaufman, David, Kitchner, Terrie E., Li, Rongling, Ludman, Evette J., McCarty, Catherine A., McCormick, Jennifer B., McManus, Valerie D., Myers, Melanie F., Scrol, Aaron, Williams, Janet L., Shrubsole, Martha J., Schildcrout, Jonathan S., Smith, Maureen E., Holm, Ingrid A.
Published in American journal of human genetics (02.03.2017)
Published in American journal of human genetics (02.03.2017)
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Journal Article
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network
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
Published in BMC medicine (17.07.2019)
Published in BMC medicine (17.07.2019)
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Journal Article
Frequency of genomic secondary findings among 21,915 eMERGE network participants
Gordon, Adam S, Zouk Hana, Venner, Eric, Eng, Christine M, Funke, Birgit H, Amendola, Laura M, Carrell, David S, Chisholm, Rex L, Chung, Wendy K, Denny, Joshua C, Fedotov, Alexander, Hakonarson Hakon, Kullo, Iftikhar J, Larson, Eric B, Leduc, Magalie S, Leppig, Kathleen A, Lennon, Niall J, Linder, Jodell E, Muzny, Donna M, Prows, Cynthia A, Rasmussen-Torvik, Laura J, Rasouly Hila Milo, Roden, Dan M, Rosenthal, Elisabeth A, Smith, Maureen E, Stanaway, Ian B, Van Driest Sara L, Walker, Kimberly, Wiesner, Georgia L, Williams, Marc S, Witkowski Leora, Crosslin David R, Gibbs, Richard A, Rehm, Heidi L, Jarvik, Gail P
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
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Journal Article
Identification of Four Novel Loci in Asthma in European American and African American Populations
Almoguera, Berta, Vazquez, Lyam, Mentch, Frank, Connolly, John, Pacheco, Jennifer A, Sundaresan, Agnes S, Peissig, Peggy L, Linneman, James G, McCarty, Catherine A, Crosslin, David, Carrell, David S, Lingren, Todd, Namjou-Khales, Bahram, Harley, John B, Larson, Eric, Jarvik, Gail P, Brilliant, Murray, Williams, Marc S, Kullo, Iftikhar J, Hysinger, Erik B, Sleiman, Patrick M A, Hakonarson, Hakon
Published in American journal of respiratory and critical care medicine (15.02.2017)
Published in American journal of respiratory and critical care medicine (15.02.2017)
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Journal Article
Development of a machine learning model to predict mild cognitive impairment using natural language processing in the absence of screening
Penfold, Robert B, Carrell, David S, Cronkite, David J, Pabiniak, Chester, Dodd, Tammy, Glass, Ashley Mh, Johnson, Eric, Thompson, Ella, Arrighi, H Michael, Stang, Paul E
Published in BMC medical informatics and decision making (12.05.2022)
Published in BMC medical informatics and decision making (12.05.2022)
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Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm
Joo, Yoonjung Yoonie, Pacheco, Jennifer A, Thompson, William K, Rasmussen-Torvik, Laura J, Rasmussen, Luke V, Lin, Frederick T J, Andrade, Mariza de, Borthwick, Kenneth M, Bottinger, Erwin, Cagan, Andrew, Carrell, David S, Denny, Joshua C, Ellis, Stephen B, Gottesman, Omri, Linneman, James G, Pathak, Jyotishman, Peissig, Peggy L, Shang, Ning, Tromp, Gerard, Veerappan, Annapoorani, Smith, Maureen E, Chisholm, Rex L, Gawron, Andrew J, Hayes, M Geoffrey, Kho, Abel N
Published in PloS one (17.05.2023)
Published in PloS one (17.05.2023)
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Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network
Pacheco, Jennifer A., Rasmussen, Luke V., Wiley, Ken, Person, Thomas Nate, Cronkite, David J., Sohn, Sunghwan, Murphy, Shawn, Gundelach, Justin H., Gainer, Vivian, Castro, Victor M., Liu, Cong, Mentch, Frank, Lingren, Todd, Sundaresan, Agnes S., Eickelberg, Garrett, Willis, Valerie, Furmanchuk, Al’ona, Patel, Roshan, Carrell, David S., Deng, Yu, Walton, Nephi, Satterfield, Benjamin A., Kullo, Iftikhar J., Dikilitas, Ozan, Smith, Joshua C., Peterson, Josh F., Shang, Ning, Kiryluk, Krzysztof, Ni, Yizhao, Li, Yikuan, Nadkarni, Girish N., Rosenthal, Elisabeth A., Walunas, Theresa L., Williams, Marc S., Karlson, Elizabeth W., Linder, Jodell E., Luo, Yuan, Weng, Chunhua, Wei, WeiQi
Published in Scientific reports (03.02.2023)
Published in Scientific reports (03.02.2023)
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Journal Article
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics
Li, Ruowang, Duan, Rui, Zhang, Xinyuan, Lumley, Thomas, Pendergrass, Sarah, Bauer, Christopher, Hakonarson, Hakon, Carrell, David S., Smoller, Jordan W., Wei, Wei-Qi, Carroll, Robert, Velez Edwards, Digna R., Wiesner, Georgia, Sleiman, Patrick, Denny, Josh C., Mosley, Jonathan D., Ritchie, Marylyn D., Chen, Yong, Moore, Jason H.
Published in Nature communications (08.01.2021)
Published in Nature communications (08.01.2021)
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Patient characteristics, pain treatment patterns, and incidence of total joint replacement in a US population with osteoarthritis
Shinde, Mayura, Rodriguez-Watson, Carla, Zhang, Tancy C, Carrell, David S, Mendelsohn, Aaron B, Nam, Young Hee, Carruth, Amanda, Petronis, Kenneth R, McMahill-Walraven, Cheryl N, Jamal-Allial, Aziza, Nair, Vinit, Pawloski, Pamala A, Hickman, Anne, Brown, Mark T, Francis, Jennie, Hornbuckle, Ken, Brown, Jeffrey S, Mo, Jingping
Published in BMC musculoskeletal disorders (23.09.2022)
Published in BMC musculoskeletal disorders (23.09.2022)
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
Chiang, Theodore, Liu, Xiuping, Wu, Tsung-Jung, Hu, Jianhong, Sedlazeck, Fritz J., White, Simon, Schaid, Daniel, Andrade, Mariza de, Jarvik, Gail P., Crosslin, David, Stanaway, Ian, Carrell, David S., Connolly, John J., Hakonarson, Hakon, Groopman, Emily E., Gharavi, Ali G., Fedotov, Alexander, Bi, Weimin, Leduc, Magalie S., Murdock, David R., Jiang, Yunyun, Meng, Linyan, Eng, Christine M., Wen, Shu, Yang, Yaping, Muzny, Donna M., Boerwinkle, Eric, Salerno, William, Venner, Eric, Gibbs, Richard A.
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Journal Article
Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network
Palmer, Melody R., Kim, Daniel S., Crosslin, David R., Stanaway, Ian B., Rosenthal, Elisabeth A., Carrell, David S., Cronkite, David J., Gordon, Adam, Du, Xiaomeng, Li, Yatong K., Williams, Marc S., Weng, Chunhua, Feng, Qiping, Li, Rongling, Pendergrass, Sarah A., Hakonarson, Hakon, Fasel, David, Sohn, Sunghwan, Sleiman, Patrick, Handelman, Samuel K., Speliotes, Elizabeth, Kullo, Iftikhar J., Larson, Eric B., Jarvik, Gail P.
Published in Genetic epidemiology (01.02.2021)
Published in Genetic epidemiology (01.02.2021)
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Journal Article
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers
Mosley, Jonathan D., Feng, QiPing, Wells, Quinn S., Van Driest, Sara L., Shaffer, Christian M., Edwards, Todd L., Bastarache, Lisa, Wei, Wei-Qi, Davis, Lea K., McCarty, Catherine A., Thompson, Will, Chute, Christopher G., Jarvik, Gail P., Gordon, Adam S., Palmer, Melody R., Crosslin, David R., Larson, Eric B., Carrell, David S., Kullo, Iftikhar J., Pacheco, Jennifer A., Peissig, Peggy L., Brilliant, Murray H., Linneman, James G., Namjou, Bahram, Williams, Marc S., Ritchie, Marylyn D., Borthwick, Kenneth M., Verma, Shefali S., Karnes, Jason H., Weiss, Scott T., Wang, Thomas J., Stein, C. Michael, Denny, Josh C., Roden, Dan M.
Published in Nature communications (30.08.2018)
Published in Nature communications (30.08.2018)
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Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions
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
Published in BMC medical informatics and decision making (28.01.2022)
Published in BMC medical informatics and decision making (28.01.2022)
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Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies
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
Published in NPJ digital medicine (13.04.2021)
Published in NPJ digital medicine (13.04.2021)
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Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort
Rosenthal, Elisabeth A, Crosslin, David R, Gordon, Adam S, Carrell, David S, Stanaway, Ian B, Larson, Eric B, Grafton, Jane, Wei, Wei-Qi, Denny, Joshua C, Feng, Qi-Ping, Shah, Amy S, Sturm, Amy C, Ritchie, Marylyn D, Pacheco, Jennifer A, Hakonarson, Hakon, Rasmussen-Torvik, Laura J, Connolly, John J, Fan, Xiao, Safarova, Maya, Kullo, Iftikhar J, Jarvik, Gail P
Published in BMC medical genomics (06.01.2021)
Published in BMC medical genomics (06.01.2021)
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Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data
Mosley, Jonathan D, Van Driest, Sara L, Larkin, Emma K, Weeke, Peter E, Witte, John S, Wells, Quinn S, Karnes, Jason H, Guo, Yan, Bastarache, Lisa, Olson, Lana M, McCarty, Catherine A, Pacheco, Jennifer A, Jarvik, Gail P, Carrell, David S, Larson, Eric B, Crosslin, David R, Kullo, Iftikhar J, Tromp, Gerard, Kuivaniemi, Helena, Carey, David J, Ritchie, Marylyn D, Denny, Josh C, Roden, Dan M
Published in PloS one (12.12.2013)
Published in PloS one (12.12.2013)
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Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network
Crosslin, David R, Robertson, Peggy D, Carrell, David S, Gordon, Adam S, Hanna, David S, Burt, Amber, Fullerton, Stephanie M, Scrol, Aaron, Ralston, James, Leppig, Kathleen, Hartzler, Andrea, Baldwin, Eric, Andrade, Mariza de, Kullo, Iftikhar J, Tromp, Gerard, Doheny, Kimberly F, Ritchie, Marylyn D, Crane, Paul K, Nickerson, Deborah A, Larson, Eric B, Jarvik, Gail P
Published in Genome medicine (03.07.2015)
Published in Genome medicine (03.07.2015)
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Identification and Validation of Anaphylaxis Using Electronic Health Data in a Population-based Setting
Bann, Maralyssa A, Carrell, David S, Gruber, Susan, Shinde, Mayura, Ball, Robert, Nelson, Jennifer C, Floyd, James S
Published in Epidemiology (Cambridge, Mass.) (01.05.2021)
Published in Epidemiology (Cambridge, Mass.) (01.05.2021)
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