Probing the Virtual Proteome to Identify Novel Disease Biomarkers

Authors: 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.

Source: Circulation. 138(22):2469-2481

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100072004099.0x000001&indx=1&recIds=ETOCvdc_100072004099.0x000001

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

Authors: Jones, Gregory T., Tromp, Gerard, Kuivaniemi, Helena, Gretarsdottir, Solveig, Baas, Annette F., Giusti, Betti, Strauss, Ewa, van‘t Hof, Femke N.G., Webb, Thomas R., Erdman, Robert, Ritchie, Marylyn D., Elmore, James R., Verma, Anurag, Pendergrass, Sarah, Kullo, Iftikhar J., Ye, Zi, Peissig, Peggy L., Gottesman, Omri, Verma, Shefali S., Malinowski, Jennifer, Rasmussen-Torvik, Laura J., Borthwick, Kenneth M., Smelser, Diane T., Crosslin, David R., de Andrade, Mariza, Ryer, Evan J., McCarty, Catherine A., Böttinger, Erwin P., Pacheco, Jennifer A., Crawford, Dana C., Carrell, David S., Gerhard, Glenn S., Franklin, David P., Carey, David J., Phillips, Victoria L., Williams, Michael J.A., Wei, Wenhua, Blair, Ross, Hill, Andrew A., Vasudevan, Thodor M., Lewis, David R., Thomson, Ian A., Krysa, Jo, Hill, Geraldine B., Roake, Justin, Merriman, Tony R., Oszkinis, Grzegorz, Galora, Silvia, Saracini, Claudia, Abbate, Rosanna, Pulli, Raffaele, Pratesi, Carlo, Saratzis, Athanasios, Verissimo, Ana R., Bumpstead, Suzannah, Badger, Stephen A., Clough, Rachel E., Cockerill, Gillian, Hafez, Hany, Scott, D. Julian A., Futers, T. Simon, Romaine, Simon P.R., Bridge, Katherine, Griffin, Kathryn J., Bailey, Marc A., Smith, Alberto, Thompson, Matthew M., van Bockxmeer, Frank M., Matthiasson, Stefan E., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Blankensteijn, Jan D., Teijink, Joep A.W., Wijmenga, Cisca, de Graaf, Jacqueline, Kiemeney, Lambertus A., Lindholt, Jes S., Hughes, Anne, Bradley, Declan T., Stirrups, Kathleen, Golledge, Jonathan, Norman, Paul E., Powell, Janet T., Humphries, Steve E., Hamby, Stephen E., Goodall, Alison H., Nelson, Christopher P., Sakalihasan, Natzi, Courtois, Audrey, Ferrell, Robert E., Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Eicher, John D., Johnson, Andrew D., Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E., Björkegren, Johan L.M., Lipovich, Leonard, Drolet, Anne M., Verhoeven, Eric L., Zeebregts, Clark J., Geelkerken, Robert H., van Sambeek, Marc R., van Sterkenburg, Steven M., de Vries, Jean-Paul, Stefansson, Kari, Thompson, John R., de Bakker, Paul I.W., Deloukas, Panos, Sayers, Robert D., Harrison, Seamus C., van Rij, Andre M., Samani, Nilesh J., Bown, Matthew J.

Source: Circulation research. 120(2):341-353

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Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network

Authors: Hellwege, Jacklyn N., Stallings, Sarah, Torstenson, Eric S., Carroll, Robert, Borthwick, Kenneth M., Brilliant, Murray H., Crosslin, David, Gordon, Adam, Hripcsak, George, Jarvik, Gail P., Linneman, James G., Devi, Parimala, Peissig, Peggy L., Sleiman, Patrick A. M., Hakonarson, Hakon, Ritchie, Marylyn D., Verma, Shefali Setia, Shang, Ning, Denny, Josh C., Roden, Dan M., Velez Edwards, Digna R., Edwards, Todd L.

Source: Scientific reports. 9(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131139797.0x000001&indx=1&recIds=ETOCvdc_100131139797.0x000001

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR

Authors: Safarova, Maya S., Satterfield, Benjamin A., Fan, Xiao, Austin, Erin E., Ye, Zhan, Bastarache, Lisa, Zheng, Neil, Ritchie, Marylyn D., Borthwick, Kenneth M., Williams, Marc S., Larson, Eric B., Scrol, Aaron, Jarvik, Gail P., Crosslin, David R., Leppig, Kathleen, Rasmussen-Torvik, Laura J., Pendergrass, Sarah A., Sturm, Amy C., Namjou, Bahram, Shah, Amy Sanghavi, Carroll, Robert J., Chung, Wendy K., Wei, Wei-Qi, Feng, QiPing, Stein, C. Michael, Roden, Dan M., Manolio, Teri A., Schaid, Daniel J., Denny, Joshua C., Hebbring, Scott J., de Andrade, Mariza, Kullo, Iftikhar J.

Source: Npj genomic medicine. 4(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131029797.0x000001&indx=1&recIds=ETOCvdc_100131029797.0x000001

Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm.

Authors: 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

Source: PLoS ONE; 5/17/2023, Vol. 18 Issue 5, p1-17, 17p

Subject Terms: DIVERTICULOSIS, NATURAL language processing, ELECTRONIC health records, GENOME-wide association studies, DIVERTICULITIS, PHENOTYPES

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers

Authors: 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.

Source: Nature communications. 9(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129891906.0x000001&indx=1&recIds=ETOCvdc_100129891906.0x000001

Portable Precision Phenotype Algorithm for Chronic Rhinosinusitis
American Medical Informatics Association (Annual symposium)

Authors: Pacheco, Jennifer A., Sundaresan, Agnes S., Borthwick, Kenneth M., Chiarella, Sergio E., Coleman, David T., Wu, Andy Y., Kho, Abel N., Hayes, M. Geoffrey, Williams, Marc S.

Source: AMIA annual symposium. 3:2131-2131

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN603389292&indx=1&recIds=ETOCCN603389292

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