PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies

by Hall, Molly A, Wallace, John, Lucas, Anastasia, Kim, Dokyoon, Basile, Anna O, Verma, Shefali S, McCarty, Cathy A, Brilliant, Murray H, Peissig, Peggy L, Kitchner, Terrie E, Verma, Anurag, Pendergrass, Sarah A, Dudek, Scott M, Moore, Jason H, Ritchie, Marylyn D
Published in Nature communications

A GWAS Study on Liver Function Test Using eMERGE Network Participants

by Namjou, Bahram, Marsolo, Keith, Lingren, Todd, Ritchie, Marylyn D, Verma, Shefali S, Cobb, Beth L, Perry, Cassandra, Kitchner, Terrie E, Brilliant, Murray H, Peissig, Peggy L, Borthwick, Kenneth M, Williams, Marc S, Grafton, Jane, Jarvik, Gail P, Holm, Ingrid A, Harley, John B
Published in PloS one

Desiderata for computable representations of electronic health records-driven phenotype algorithms

by Mo, Huan, Thompson, William K, Rasmussen, Luke V, Pacheco, Jennifer A, Jiang, Guoqian, Kiefer, Richard, Zhu, Qian, Xu, Jie, Montague, Enid, Carrell, David S, Lingren, Todd, Mentch, Frank D, Ni, Yizhao, Wehbe, Firas H, Peissig, Peggy L, Tromp, Gerard, Larson, Eric B, Chute, Christopher G, Pathak, Jyotishman, Denny, Joshua C, Speltz, Peter, Kho, Abel N, Jarvik, Gail P, Bejan, Cosmin A, Williams, Marc S, Borthwick, Kenneth, Kitchner, Terrie E, Roden, Dan M, Harris, Paul A
Published in Journal of the American Medical Informatics Association : JAMIA

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

by Gallego, Carlos J., Burt, Amber, Sundaresan, Agnes S., Ye, Zi, Shaw, Christopher, Crosslin, David R., Crane, Paul K., Fullerton, S. Malia, Hansen, Kris, Carrell, David, Kuivaniemi, Helena, Derr, Kimberly, de Andrade, Mariza, McCarty, Catherine A., Kitchner, Terrie E., Ragon, Brittany K., Stallings, Sarah C., Papa, Gabriella, Bochenek, Joseph, Smith, Maureen E., Aufox, Sharon A., Pacheco, Jennifer A., Patel, Vaibhav, Friesema, Elisha M., Erwin, Angelika Ludtke, Gottesman, Omri, Gerhard, Glenn S., Ritchie, Marylyn, Motulsky, Arno G., Kullo, Iftikhar J., Larson, Eric B., Tromp, Gerard, Brilliant, Murray H., Bottinger, Erwin, Denny, Joshua C., Roden, Dan M., Williams, Marc S., Jarvik, Gail P.
Published in American journal of human genetics

Enrichment sampling for a multi-site patient survey using electronic health records and census data

by Mercaldo, Nathaniel D, Brothers, Kyle B, Carrell, David S, Clayton, Ellen W, Connolly, John J, Holm, Ingrid A, Horowitz, Carol R, Jarvik, Gail P, Kitchner, Terrie E, Li, Rongling, McCarty, Catherine A, McCormick, Jennifer B, McManus, Valerie D, Myers, Melanie F, Pankratz, Joshua J, Shrubsole, Martha J, Smith, Maureen E, Stallings, Sarah C, Williams, Janet L, Schildcrout, Jonathan S
Published in Journal of the American Medical Informatics Association : JAMIA

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

by Reis, Linda M, Tyler, Rebecca C, Weh, Eric, Hendee, Kathryn E, Kariminejad, Ariana, Abdul-Rahman, Omar, Ben-Omran, Tawfeg, Manning, Melanie A, Yesilyurt, Ahmet, McCarty, Catherine A, Kitchner, Terrie E, Costakos, Deborah, Semina, Elena V
Published in Molecular vision

Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy

by Van Driest, Sara L, McGregor, Tracy L, Velez Edwards, Digna R, Saville, Ben R, Kitchner, Terrie E, Hebbring, Scott J, Brilliant, Murray, Jouni, Hayan, Kullo, Iftikhar J, Creech, C Buddy, Kannankeril, Prince J, Vear, Susan I, Brothers, Kyle B, Bowton, Erica A, Shaffer, Christian M, Patel, Neelam, Delaney, Jessica T, Bradford, Yuki, Wilson, Sarah, Olson, Lana M, Crawford, Dana C, Potts, Amy L, Ho, Richard H, Roden, Dan M, Denny, Josh C
Published in PloS one

CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids

by Dahlin, Amber, Denny, Joshua, Roden, Dan M., Brilliant, Murray H., Ingram, Christie, Kitchner, Terrie E., Linneman, James G., Shaffer, Christian M., Weeke, Peter, Xu, Hua, Kubo, Michiaki, Tamari, Mayumi, Clemmer, George L., Ziniti, John, McGeachie, Michael J., Tantisira, Kelan G., Weiss, Scott T., Wu, Ann Chen
Published in Immunity, Inflammation and Disease

A novel gene–environment interaction involved in endometriosis

by McCarty, Catherine A, Berg, Richard L, Welter, Joseph D, Kitchner, Terrie E, Kemnitz, Joseph W
Published in International journal of gynecology and obstetrics

Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US

by 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

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

by Van Driest, Sara L, Wells, Quinn S, Stallings, Sarah, Bush, William S, Gordon, Adam, Nickerson, Deborah A, Kim, Jerry H, Crosslin, David R, Jarvik, Gail P, Carrell, David S, Ralston, James D, Larson, Eric B, Bielinski, Suzette J, Olson, Janet E, Ye, Zi, Kullo, Iftikhar J, Abul-Husn, Noura S, Scott, Stuart A, Bottinger, Erwin, Almoguera, Berta, Connolly, John, Chiavacci, Rosetta, Hakonarson, Hakon, Rasmussen-Torvik, Laura J, Pan, Vivian, Persell, Stephen D, Smith, Maureen, Chisholm, Rex L, Kitchner, Terrie E, He, Max M, Brilliant, Murray H, Wallace, John R, Doheny, Kimberly F, Shoemaker, M. Benjamin, Li, Rongling, Manolio, Teri A, Callis, Thomas E, Macaya, Daniela, Williams, Marc S, Carey, David, Kapplinger, Jamie D, Ackerman, Michael J, Ritchie, Marylyn D, Denny, Joshua C, Roden, Dan M
Published in JAMA : the journal of the American Medical Association

Probing the Virtual Proteome to Identify Novel Disease Biomarkers

by Mosley, Jonathan D, Benson, Mark D, Smith, J Gustav, Melander, Olle, Ngo, Debby, Shaffer, Christian M, Ferguson, Jane F, Herzig, Matthew S, McCarty, Catherine A, 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, Kitchner, Terrie E, Linneman, James G, Namjou, Bahram, Williams, Marc S, Ritchie, Marylyn D, Borthwick, Kenneth M, Kiryluk, Krzysztof, Mentch, Frank D, Sleiman, Patrick M, Karlson, Elizabeth W, Verma, Shefali S, Zhu, Yineng, Vasan, Ramachandran S, Yang, Qiong, Denny, Josh C, Roden, Dan M, Gerszten, Robert E, Wang, Thomas J
Published in Circulation (New York, N.Y.)

Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

by Waksmunski, Andrea R, Grunin, Michelle, Kinzy, Tyler G, Igo, Jr, Robert P, Haines, Jonathan L, Cooke Bailey, Jessica N
Published in Investigative ophthalmology & visual science

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

by Grassmann, Felix, Kiel, Christina, Zimmermann, Martina E, Gorski, Mathias, Grassmann, Veronika, Stark, Klaus, Heid, Iris M, Weber, Bernhard H F
Published in Genome medicine

Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy: e0127791

by Driest, Sara LVan, McGregor, Tracy L, Edwards, Digna RVelez, Saville, Ben R, Kitchner, Terrie E, Hebbring, Scott J, Brilliant, Murray, Jouni, Hayan, Kullo, Iftikhar J, Creech, C Buddy
Published in PloS one

Risk of Heart Failure in Breast Cancer Patients After Anthracycline and Trastuzumab Treatment: A Retrospective Cohort Study

by AIELLO BOWLES, Erin J, WELLMAN, Robert, HABEL, Laurel A, ULCICKAS YOOD, Marianne, MCCARTY, Catherine, MAGID, David J, WAGNER, Edward H, SPENCER FEIGELSON, Heather, ONITILO, Adedayo A, FREEDMAN, Andrew N, DELATE, Thomas, ALLEN, Larry A, NEKHLYUDOV, Larissa, GODDARD, Katrina A. B, DAVIS, Robert L
Published in JNCI : Journal of the National Cancer Institute

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

by Gottesman, Omri, Kuivaniemi, Helena, Tromp, Gerard, Faucett, W. Andrew, Li, Rongling, Manolio, Teri A., Sanderson, Saskia C., Kannry, Joseph, Zinberg, Randi, Basford, Melissa A., Brilliant, Murray, Carey, David J., Chisholm, Rex L., Chute, Christopher G., Connolly, John J., Crosslin, David, Denny, Joshua C., Gallego, Carlos J., Haines, Jonathan L., Hakonarson, Hakon, Harley, John, Jarvik, Gail P., Kohane, Isaac, Kullo, Iftikhar J., Larson, Eric B., McCarty, Catherine, Ritchie, Marylyn D., Roden, Dan M., Smith, Maureen E., Böttinger, Erwin P., Williams, Marc S.
Published in Genetics in medicine

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.
Published in American journal of human genetics

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies

by McCarty, Catherine A, Chisholm, Rex L, Chute, Christopher G, Kullo, Iftikhar J, Jarvik, Gail P, Larson, Eric B, Li, Rongling, Masys, Daniel R, Ritchie, Marylyn D, Roden, Dan M, Struewing, Jeffery P, Wolf, Wendy A
Published in BMC genomics

Machine Learning Prediction of Treatment Response to Inhaled Corticosteroids in Asthma

by Ong, Mei-Sing, Sordillo, Joanne E, Dahlin, Amber, McGeachie, Michael, Tantisira, Kelan, Wang, Alberta L, Lasky-Su, Jessica, Brilliant, Murray, Kitchner, Terrie, Roden, Dan M, Weiss, Scott T, Wu, Ann Chen
Published in Journal of personalized medicine