A Multifaceted Benchmarking of Synthetic Electronic Health Record Generation Models

Authors: Yan, Chao, Yan, Yao, Wan, Zhiyu, Zhang, Ziqi, Omberg, Larsson, Guinney, Justin, Mooney, Sean D., Malin, Bradley A.

Subject Terms: Computer Science - Machine Learning, Computer Science - Artificial Intelligence, Computer Science - Computers and Society

Access URL: http://arxiv.org/abs/2208.01230

Establishing a Validation Infrastructure for Imaging-Based Artificial Intelligence Algorithms Before Clinical Implementation

Authors: Ramwala, Ojas A., Lowry, Kathryn P., Cross, Nathan M., Hsu, William, Austin, Christopher C., Mooney, Sean D., Lee, Christoph I.

Source: In Journal of the American College of Radiology October 2024 21(10):1569-1574

Proteomic Analysis of Huntington’s Disease Medium Spiny Neurons Identifies Alterations in Lipid Droplets

Authors: Tshilenge, Kizito-Tshitoko, Aguirre, Carlos Galicia, Bons, Joanna, Gerencser, Akos A., Basisty, Nathan, Song, Sicheng, Rose, Jacob, Lopez-Ramirez, Alejandro, Naphade, Swati, Loureiro, Ashley, Battistoni, Elena, Milani, Mateus, Wehrfritz, Cameron, Holtz, Anja, Hetz, Claudio, Mooney, Sean D., Schilling, Birgit, Ellerby, Lisa M.

Source: In Molecular & Cellular Proteomics May 2023 22(5)

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Authors: Gordon, Adam, Sobowale, Agboade, Allworth, Aimee, Patel, Akshar, DiVietro, Alanna, Strong, Alanna, Sherafati, Alborz, Sherfati, Alborz, Bick, Alex, Miller, Alexandra, Chandel, Alka, Rosenthal, Alyssa, Khera, Amit, Kontorovich, Amy, Beck, Andrew, Beck, Andy, Espinoza, Angelica, Lewis, Anna, Prince, Anya, Khan, Atlas, Iverson, Ayuko, Khales, Bahram Namjou, Benoit, Barbara, Hernan, Becca, Kallman, Ben, Kerman, Ben, Shoemaker, Ben, Satterfield, Benjamin, Devine, Beth, Etheridge, Bethany, Goff, Blake, Freimuth, Bob, Grundmeier, Bob, Collier, Brenae, Mutai, Brenda, Harnett, Brett, Chang, Brian, Piening, Brian, Davis, Brittney, Korf, Bruce, Patterson, Candace, Demetriou, Carmen, Ta, Casey, Hammack, Catherine, Nelson, Catrina, Gascoigne, Caytie, Dorn, Chad, Moretz, Chad, Kachulis, Chris, Hoell, Christie, Cowles, Christine, Lange, Christoph, Weng, Chunhua, Prows, Cindy, Brokamp, Cole, Liu, Cong, Scherr, Courtney, Gonzalez, Crystal, Ramirez, Cynthia, Shimbo, Daichi, Roden, Dan, Schaid, Daniel, Kaufman, Dave, Crosslin, David, Kochan, David, Veenstra, David, Singh, Davinder, Karavite, Dean, Abrams, Debbie, Absher, Devin, Edwards, Digna Velez, Haverfield, Eden, Morales, Eduardo, Esplin, Edward, Malolepsza, Edyta, Alipour, Ehsan, Kenny, Eimear, Rosenthal, Elisabeth, Duvall, Eliza, McNally, Elizabeth, Bhoj, Elizabeth, Cohn, Elizabeth, Hibler, Elizabeth, Karlson, Elizabeth, Clayton, Ellen, Chesnut, Emily, DeFranco, Emily, Gallagher, Emily, Soper, Emily, Perez, Emma, Cash, Erin, Berner, Eta, Wang, Fei, Wehbe, Firas, Ricci, Francisco, Mentch, Frank, Shaibi, Gabriel, Jarvik, Gail, Hahn, George, Hripcsak, George, Wiesner, Georgia, Belbin, Gillian, Davogustto, Gio, Nadkarni, Girish, Qiu, Haijun, Hakonarson, Hakon, Bangash, Hana, Beasley, Hannah, Liu, Hao, Aungst, Heide, Tiwari, Hemant, Duckham, Hillary, Thomas, Hope, Kullo, Iftikhar, Holm, Ingrid, Allen, Isabelle, Ionita-Laza, Iuliana, Hellwege, Jacklyn, Petrzelka, Jacob, Odgis, Jacqueline, Narula, Jahnavi, Petrzelka, Jake, Patel, Jalpa, Cimino, James, Meigs, James, Snyder, James, Olson, Janet, Zahner, Janet, Pennington, Jeff, Pacheco, Jen, Pacheco, Jennifer Allen, Morse, Jennifer, Corsmo, Jeremy, Thayer, Jeritt, Cimino, Jim, Chen, Jingheng, Fournier, Jocelyn, Jackson, Jodell, Glessner, Joe, Pacyna, Joel, Smith, Johanna, Connolly, John, Lynch, John, Shelley, John, Mosley, Jonathan, Nestor, Jordan, Smoller, Jordan, Alsip, Jorge, Kannry, Joseph, Sutton, Joseph, Peterson, Josh, Smith, Joshua, Galasso, Julia, Smith, Julia, Wynn, Julia, Gundelach, Justin, Starren, Justin, Choi, Karmel, Mittendorf, Kate, Anderson, Katherine, Bonini, Katherine, Leppig, Kathleen, Muenzen, Kathleen, Larkin, Katie, Stuttgen, Kelsey, Wiley, Ken, Nguyen, Kenny, Dufendach, Kevin, Atkins, Kiley, Sawicki, Konrad, Norland, Kristjan, Kiryluk, Krzysztof, Beskow, Laura, Rasmussen-Torvik, Laura, Kottyan, Leah, Hsu, Li, Tian, Lifeng, Mahanta, Lisa, Martin, Lisa, Wang, Lisa, Gomez, Lizbeth, Thompson, Lorenzo, Orlando, Lori, Richter, Lucas, Rasmussen, Luke, Petukhova, Lynn, Seabolt, Lynn, O’Brien, Madison, Harden, Maegan, Fullerton, Malia, Harr, Margaret, Beasley, Mark, Guindo, Marta, Horike, Martha, Horike-Pyne, Martha, Abdalla, Marwah, Hamed, Marwan, Terry, Mary Beth, Maradik, Mary, Wyatt, Matt, Davis, Matthew, Lebo, Matthew, Smith, Maureen, Rosario, Maya del, Sabatello, Maya, Behr, Meckenzie, Roy-Puckelwartz, Meg, Habrat, Mel, Myers, Melanie, Yetisgen, Meliha, Iris, Merve, DaSilva, Michael, Preuss, Michael, McGowan, Michelle, Shi, Mingjian, Perera, Minoli, Thomas, Minta, Elkind, Mitch, Abbass, Mohammad, Saadatagah, Mohammad, Hess, Molly, Maradik, Molly, Vaitinadin, Nataraja “RJ”, Vaitinadin, Nataraja, Muthu, Naveen, Netherly, Neil, Lennon, Niall, Shang, Ning, Limdi, Nita, Forrest, Noah, Romero, Noheli, Robinson, Nora, Abul-Husn, Noura, Elsekaily, Omar, Dikilitas, Ozan, Kovatch, Patricia, Davis, Patrick, Appelbaum, Paul, Francaviglia, Paul, O’Reilly, Paul, Chandler, Paulette, Caraballo, Pedro, Tarczy-Hornoch, Peter, Shum, Pierre, Marathe, Priya, Murali, Priyanka, Feng, Qiping, Wells, Quinn, Atchley, Rachel, Narla, Radhika, Barton, Rene, Sterling, Rene, Chisholm, Rex, Green, Richard, Sharp, Richard, Peters, Riki, Kukafka, Rita, Rowley, Robb, Freimuth, Robert, Green, Robert, Winter, Robert, Mueller, Roger, Loos, Ruth, Irvin, Ryan, Suckiel, Sabrina, Hussain, Sajjad, Sharba, Samer, Aronson, Sandy, Jones, Sarah, Knerr, Sarah, Nigbur, Scott, Weiss, Scott, Mooney, Sean, Terek, Shannon, Aufox, Sharon, Nirenberg, Sharon, Murphy, Shawn, O’Byrne, Sheila, Wang (Sam) Choi, Shing, Aguilar, Sienna, Bland, S.T., Rodrigues, Stefanie, Ledbetter, Stephanie, Rutledge, Stephanie, Booth, Stuart James, Xian, Su, Trinidad, Susan Brown, Bakken, Suzanne, Schmidlen, Tara, Rakhra-Burris, Tejinder, Manolio, Teri, Mersha, Tesfaye, Walunas, Theresa, Chandereng, Thevaa, May, Thomas, Ge, Tian, Edwards, Todd, Kaszemacher, Tom, Hernandez, Valentina, Willis, Valerie, Desai, Vemi, Desai, Vimi, Lorenzi, Virginia, Gainer, Vivian, Wei, Wei-Qi, Chung, Wendy, Su, Wu-Chen, Chang, Xiao, Zhao, Yiqing, Luo, Yuan, Shen, Yufeng, Linder, Jodell E., Bland, Harris T., Caraballo, Pedro J., Chisholm, Rex L., Clayton, Ellen Wright, Crosslin, David R., Esplin, Edward D., Forman, Sophie, Freimuth, Robert R., Gordon, Adam S., Harden, Maegan V., Holm, Ingrid A., Jarvik, Gail P., Karlson, Elizabeth W., Labrecque, Sofia, Lennon, Niall J., Limdi, Nita A., Mittendorf, Kathleen F., Murphy, Shawn N., Prows, Cynthia A., Rasmussen, Luke V., Sawicki, Konrad Teodor, Velez Edwards, Digna R., Abul-Husn, Noura S., Below, Jennifer E., Berner, Eta S., Booth, James, Chung, Wendy K., Cimino, James J., Fullerton, Stephanie M., Guiducci, Candace, Habrat, Melissa L., Hain, Heather, Hoell, Christin, Irvin, Marguerite R., Kachulis, Christopher, Kenny, Eimear E., Kullo, Iftikhar J., Manolio, Teri A., McNally, Elizabeth M., Mooney, Sean D., Namjou, Bahram, Perez, Emma F., Puckelwartz, Megan J., Roden, Dan M., Rosenthal, Elisabeth A., Saadatagah, Seyedmohammad, Schaid, Dan J., Schultz, Baergen, Shaibi, Gabriel Q., Sharp, Richard R., Shirts, Brian, Smith, Maureen E., Smoller, Jordan W., Suckiel, Sabrina A., Tiwari, Hemant K., Trinidad, Susan B., Wells, Quinn S., Wiesner, Georgia L., Peterson, Josh F.

Source: In Genetics in Medicine April 2023 25(4)

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Authors: Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott, Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Radivojac, Predrag

Source: In The American Journal of Human Genetics 1 December 2022 109(12):2163-2177

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Authors: Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O'Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E.

Source: American journal of human genetics. 109(12):2163-2177

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176670372.0x000001&indx=1&recIds=ETOCvdc_100176670372.0x000001

A Comparison of Natural Language Processing Methods for the Classification of Lumbar Spine Imaging Findings Related to Lower Back Pain

Authors: Jujjavarapu, Chethan, Pejaver, Vikas, Cohen, Trevor A., Mooney, Sean D., Heagerty, Patrick J., Jarvik, Jeffrey G.

Source: Academic radiology. 29(3):S188-S200

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164986988.0x000001&indx=1&recIds=ETOCvdc_100164986988.0x000001

A Participant-Centered Approach to Understanding Risks and Benefits of Participation in Research Informed by the Kidney Precision Medicine Project

Authors: Alexandrov, Theodore, Alpers, Charles E., Anderton, Christopher R., Ardayfio, Joseph, Arora, Tanima, El-Achkar, Tarek M., Azeloglu, Evren U., Balderes, Olivia, Balis, Ulysses G.J., Bansal, Shweta, Barasch, Jonathan M., Barwinska, Daria, Bebiak, Jack, Blanc, Victoria M., Blank, Kristina N., Bomback, Andrew S., Brown, Keith D., Bush, William S., Campbell, Taneisha, Canetta, Pietro A., Carson, Jonas, Cooperman, Leslie, Crawford, Dana C., D’Agati, Vivette D., Dagher, Pierre C., Daniel, Stephen, Dowd, Frederick, Dunn, Kenneth W., Eadon, Michael T., Eddy, Sean, Elder, Michele M., Ferkowicz, Michael J., Gaut, Joe P., Goltsev, Yury, Gonzalez-Vicente, Agustin, Hacohen, Nir, Hansen, Jens, Hayashi, Lynda, He, Oliver, He, Cijang, Hedayati, S. Susan, Herlitz, Leal, Hodgin, Jeffrey B., Hoofnagle, Andrew N., Hoover, Paul J., Iyengar, Ravi, Jain, Sanjay, Jefferson, Nichole, Jolly, Stacey, Kellum, John A., Kelly, Katherine J., Kermani, Asra, Kiryluk, Krzysztof, Koewler, Robert, Kretzler, Matthias, Lake, Blue B., Laszik, Zoltan G., Lecker, Stewart H., Lee, Simon C., Lienczewski, Chrysta, Lu, Christopher Y., Mariani, Laura H., McClelland, Robyn L., McMahon, Gearoid M., Menez, Steven, Menon, Rajasree, Miller, Tyler, Moe, Orson W., Moledina, Dennis, Mooney, Sean D., Nguyen, Jane, Nolan, Garry, Oliver, George, Otto, Edgar, Palevsky, Paul M., Palmer, Ellen, Pamreddy, Annapurna, Parikh, Chirag R., Parikh, Samir, Park, Christopher, Park, Harold, Pasa-Tolic, Ljiljana, Pinkeney, Roy, Poggio, Emilio, Randhawa, Parmjeet, Rennke, Helmut, Roberts, Glenda V., Rosenberg, Avi, Rosengart, Matthew, Rovin, Brad, Roy, Neil, Sambandam, Kamalanathan, Sarwal, Minnie, Saul, John, Schaub, Jennifer, Sealfon, Rachel, Shang, Ning, Shankland, Stuart, Sharma, Kumar, Shpigel, Anna, Sigdel, Tara, Steck, Becky, Stillman, Isaac, Stutzke, Edith Christine, Sutton, Timothy A., Torrealba, Jose, Toto, Robert D., Troyanskaya, Olga, Tublin, Mitchell, Ugwuowo, Ugochukwu, Vazquez, Miguel, Velickovic, Dusan, Venkatachalam, Manjeri, Vijayan, Anitha, Corona-Villalobos, Celia P., Wang, Nancy, Weins, Astrid, Wilcox, Adam, Williams, Kayleen, Williams, Mark, Wilson, Francis P., Winfree, Seth, Xiong, Yuguang, Zhang, Kun, Zhang, Guanshi, Butler, Catherine R., Appelbaum, Paul S., Ascani, Heather, Aulisio, Mark, Campbell, Catherine E., de Boer, Ian H., Dighe, Ashveena L., Hall, Daniel E., Himmelfarb, Jonathan, Knight, Richard, Mehl, Karla, Murugan, Raghavan, Rosas, Sylvia E., Sedor, John R., O’Toole, John F., Tuttle, Katherine R., Waikar, Sushrut S., Freeman, Michael

Source: In American Journal of Kidney Diseases July 2022 80(1):132-138

Cadherin-11, Sparc-related modular calcium binding protein-2, and Pigment epithelium-derived factor are promising non-invasive biomarkers of kidney fibrosis

Authors: Knight, Richard, Lecker, Stewart H., Stillman, Isaac, Bogen, Steve, Amodu, Afolarin A., Ilori, Titlayo, Maikhor, Shana, Schmidt, Insa M., Beck, Laurence H., Henderson, Joel M., Onul, Ingrid, Verma, Ashish, McMahon, Gearoid M., Valerius, M. Todd, Waikar, Sushrut, Weins, Astrid, Colona, Mia R., Greka, Anna, Hacohen, Nir, Hoover, Paul J., Marshall, Jamie L., Aulisio, Mark, Chen, Yijiang M., Janowczyk, Andrew, Jayapandian, Catherine, Viswanathan, Vidya S., Bush, William S., Crawford, Dana C., Madabhushi, Anant, Bush, Lakeshia, Cooperman, Leslie, Gonzalez-Vicente, Agustin, Herlitz, Leal, Jolly, Stacey, Nguyen, Jane, O’toole, John, Palmer, Ellen, Poggio, Emilio, Sedor, John, Sendrey, Dianna, Spates-Harden, Kassandra, Taliercio, Jonathan, Bjornstad, Petter M., Pyle, Laura, Vinovskis, Carissa, Appelbaum, Paul, Balderes, Olivia, Barasch, Jonathan M., Bomback, Andrew S., Canetta, Pietro A., D’Agati, Vivette D., Kiryluk, Krzysztof, Kudose, Satoru, Mehl, Karla, Shang, Ning, Bansal, Shweta, Alexandrov, Theodore, Rennke, Helmut, El-Achkar, Tarek M., Barwinska, Daria, Bledso, Sharon, Borner, Katy, Bueckle, Andreas, Cheng, Yinghua, Dagher, Pierre C., Dunn, Kenneth W., Eadon, Michael T., Ferkowicz, Michael J., Herr, Bruce W., Kelly, Katherine J., Ferreira, Ricardo Melo, Quardokus, Ellen M., Record, Elizabeth, Rivera, Marcelino, Su, Jing, Sutton, Timothy A., Williams, James C., Jr., Winfree, Seth, Jain, Yashvardhan, Menez, Steven, Parikh, Chirag R., Rosenberg, Avi, Corona-Villalobos, Celia P., Wen, Yumeng, Johansen, Camille, Rosas, Sylvia E., Roy, Neil, Sun, Jennifer, Williams, Mark, Azeloglu, Evren U., Hansen, Jens, He, Cijang, Iyengar, Ravi, Xiong, Yuguang, Prasad, Pottumarthi, Srivastava, Anand, Madhavan, Sethu M., Parikh, Samir, Rovin, Brad, Shapiro, John P., Anderton, Christopher R., Lukowski, Jessica, Pasa-Tolic, Ljiljana, Velickovic, Dusan, Oliver, George (Holt), Ardayfio, Joseph, Bebiak, Jack, Brown, Keith, Campbell, Taneisha, Campbell, Catherine E., Hayashi, Lynda, Jefferson, Nichole, Roberts, Glenda V., Saul, John, Shpigel, Anna, Stutzke, Christy, Koewler, Robert, Pinkeney, Roy, Sealfon, Rachel, Troyanskaya, Olga, Wong, Aaron, Tuttle, Katherine R., Pollack, Ari, Goltsev, Yury, Ginley, Brandon, Lucarelli, Nicholas, Lutnick, Brendon, Sarder, Pinaki, Lake, Blue B., Zhang, Kun, Boada, Patrick, Laszik, Zoltan G., Nolan, Garry, Anjani, Kavya, Sarwal, Minnie, Mukatash, Tariq, Sigdel, Tara, Alloway, Rita R., Burg, Ashley R., Lee, Paul J., Rike, Adele, Shi, Tiffany, Woodle, E. Steve, Ascani, Heather, Balis, Ulysses G.J., Blanc, Victoria M., Conser, Ninive C., Eddy, Sean, Frey, Renee, He, Yougqun, Hodgin, Jeffrey B., Kretzler, Matthias, Lienczewski, Chrysta, Luo, Jinghui, Mariani, Laura H., Menon, Rajasree, Otto, Edgar, Schaub, Jennifer, Steck, Becky, Elder, Michele M., Gilliam, Matthew, Hall, Daniel E., Murugan, Raghavan, Palevsky, Paul M., Randhawa, Parmjeet, Rosengart, Matthew, Tublin, Mitchell, Vita, Tina, Winters, James, Kellum, John A., Alpers, Charles E., Berglund, Ashley, Berry, Brooke, Blank, Kristina N., Carson, Jonas, Daniel, Stephen, De Boer, Ian H., Dighe, Ashveena L., Dowd, Frederick, Grewenow, Stephanie M., Himmelfarb, Jonathan, Hoofnagle, Andrew N., Limonte, Christine, McClelland, Robyn L., Mooney, Sean D., Rezaei, Kasra, Shankland, Stuart, Snyder, Jamie, Wang, Ruikang, Wilcox, Adam, Williams, Kayleen, Park, Christopher, Montellano, Richard, Pamreddy, Annapurna, Sharma, Kumar, Venkatachalam, Manjeri, Ye, Hongping, Zhang, Guanshi, Basit, Mujeeb, Hedayati, S. Susan, Kermani, Asra, Lee, Simon C., Lu, Christopher Y., Miller, R. Tyler, Moe, Orson W., Patel, Jiten, Pillai, Anil, Sambandam, Kamalanathan, Torrealba, Jose, Toto, Robert D., Vazquez, Miguel, Wang, Nancy, Wen, Natasha, Zhang, Dianbo, Park, Harold, Caprioli, Richard M., Patterson, Nathan, Sharman, Kavya, Spraggins, Jeffrey M., Van de Plas, Raf, Basta, Jeanine, Diettman, Sabine M., Gaut, Joseph P., Jain, Sanjay, Rauchman, Michael I., Vijayan, Anitha, Cantley, Lloyd G., Kakade, Vijaykumar R., Moledina, Dennis, Shaw, Melissa M., Ugwuowo, Ugochukwu, Wilson, Francis P., Arora, Tanima, Kestenbaum, Bryan R., Alexopoulos, Leonidas G., Palsson, Ragnar, Liu, Jing, Stillman, Isaac E., Rennke, Helmut G., Vaidya, Vishal S., Wu, Haojia, Humphreys, Benjamin D., Waikar, Sushrut S.

Source: In Kidney International September 2021 100(3):672-683

An expanded evaluation of protein function prediction methods shows an improvement in accuracy

Authors: Jiang, Yuxiang, Oron, Tal Ronnen, Clark, Wyatt T, Bankapur, Asma R, D'Andrea, Daniel, Lepore, Rosalba, Funk, Christopher S, Kahanda, Indika, Verspoor, Karin M, Ben-Hur, Asa, Koo, Emily, Penfold-Brown, Duncan, Shasha, Dennis, Youngs, Noah, Bonneau, Richard, Lin, Alexandra, Sahraeian, Sayed ME, Martelli, Pier Luigi, Profiti, Giuseppe, Casadio, Rita, Cao, Renzhi, Zhong, Zhaolong, Cheng, Jianlin, Altenhoff, Adrian, Skunca, Nives, Dessimoz, Christophe, Dogan, Tunca, Hakala, Kai, Kaewphan, Suwisa, Mehryary, Farrokh, Salakoski, Tapio, Ginter, Filip, Fang, Hai, Smithers, Ben, Oates, Matt, Gough, Julian, Törönen, Petri, Koskinen, Patrik, Holm, Liisa, Chen, Ching-Tai, Hsu, Wen-Lian, Bryson, Kevin, Cozzetto, Domenico, Minneci, Federico, Jones, David T, Chapman, Samuel, C., Dukka B K., Khan, Ishita K, Kihara, Daisuke, Ofer, Dan, Rappoport, Nadav, Stern, Amos, Cibrian-Uhalte, Elena, Denny, Paul, Foulger, Rebecca E, Hieta, Reija, Legge, Duncan, Lovering, Ruth C, Magrane, Michele, Melidoni, Anna N, Mutowo-Meullenet, Prudence, Pichler, Klemens, Shypitsyna, Aleksandra, Li, Biao, Zakeri, Pooya, ElShal, Sarah, Tranchevent, Léon-Charles, Das, Sayoni, Dawson, Natalie L, Lee, David, Lees, Jonathan G, Sillitoe, Ian, Bhat, Prajwal, Nepusz, Tamás, Romero, Alfonso E, Sasidharan, Rajkumar, Yang, Haixuan, Paccanaro, Alberto, Gillis, Jesse, Sedeño-Cortés, Adriana E, Pavlidis, Paul, Feng, Shou, Cejuela, Juan M, Goldberg, Tatyana, Hamp, Tobias, Richter, Lothar, Salamov, Asaf, Gabaldon, Toni, Marcet-Houben, Marina, Supek, Fran, Gong, Qingtian, Ning, Wei, Zhou, Yuanpeng, Tian, Weidong, Falda, Marco, Fontana, Paolo, Lavezzo, Enrico, Toppo, Stefano, Ferrari, Carlo, Giollo, Manuel, Piovesan, Damiano, Tosatto, Silvio, del Pozo, Angela, Fernández, José M, Maietta, Paolo, Valencia, Alfonso, Tress, Michael L, Benso, Alfredo, Di Carlo, Stefano, Politano, Gianfranco, Savino, Alessandro, Rehman, Hafeez Ur, Re, Matteo, Mesiti, Marco, Valentini, Giorgio, Bargsten, Joachim W, van Dijk, Aalt DJ, Gemovic, Branislava, Glisic, Sanja, Perovic, Vladmir, Veljkovic, Veljko, Veljkovic, Nevena, Almeida-e-Silva, Danillo C, Vencio, Ricardo ZN, Sharan, Malvika, Vogel, Jörg, Kansakar, Lakesh, Zhang, Shanshan, Vucetic, Slobodan, Wang, Zheng, Sternberg, Michael JE, Wass, Mark N, Huntley, Rachael P, Martin, Maria J, O'Donovan, Claire, Robinson, Peter N, Moreau, Yves, Tramontano, Anna, Babbitt, Patricia C, Brenner, Steven E, Linial, Michal, Orengo, Christine A, Rost, Burkhard, Greene, Casey S, Mooney, Sean D, Friedberg, Iddo, Radivojac, Predrag

Subject Terms: Quantitative Biology - Quantitative Methods

Access URL: http://arxiv.org/abs/1601.00891

Rationale and design of the Kidney Precision Medicine Project

Authors: de Boer, Ian H., Alpers, Charles E., Azeloglu, Evren U., Balis, Ulysses G.J., Barasch, Jonathan M., Barisoni, Laura, Blank, Kristina N., Bomback, Andrew S., Brown, Keith, Dagher, Pierre C., Dighe, Ashveena L., Eadon, Michael T., El-Achkar, Tarek M., Gaut, Joseph P., Hacohen, Nir, He, Yongqun, Hodgin, Jeffrey B., Jain, Sanjay, Kellum, John A., Kiryluk, Krzysztof, Knight, Richard, Laszik, Zoltan G., Lienczewski, Chrysta, Mariani, Laura H., McClelland, Robyn L., Menez, Steven, Moledina, Dennis G., Mooney, Sean D., O'Toole, John F., Palevsky, Paul M., Parikh, Chirag R., Poggio, Emilio D., Rosas, Sylvia E., Rosengart, Matthew R., Sarwal, Minnie M., Schaub, Jennifer A., Sedor, John R., Sharma, Kumar, Steck, Becky, Toto, Robert D., Troyanskaya, Olga G., Tuttle, Katherine R., Vazquez, Miguel A., Waikar, Sushrut S., Williams, Kayleen, Wilson, Francis Perry, Zhang, Kun, Iyengar, Ravi, Kretzler, Matthias, Himmelfarb, Jonathan

Source: Kidney international. 99(3):498-510

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136428866.0x000001&indx=1&recIds=ETOCvdc_100136428866.0x000001

Information needs and priority use cases of population health researchers to improve preparedness for future hurricanes and floods

Authors: Phuong, Jimmy, Bandaragoda, Christina J, Haldar, Shefali, Stephens, Kari A, Ordonez, Patricia, Mooney, Sean D, Hartzler, Andrea L

Source: Journal of the American Medical Informatics Association. 28(2):249-260

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125502726.0x000001&indx=1&recIds=ETOCvdc_100125502726.0x000001

From the clinic to the community: Can health system data accurately estimate population obesity prevalence?

Authors: Mooney, Stephen J., Song, Lin, Drewnowski, Adam, Buskiewicz, James, Mooney, Sean D., Saelens, Brian E., Arterburn, David E.

Source: Obesity. 29(11):1961-1968

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100132810164.0x000001&indx=1&recIds=ETOCvdc_100132810164.0x000001

Automated retrieval, preprocessing, and visualization of gridded hydrometeorology data products for spatial-temporal exploratory analysis and intercomparison

Authors: Phuong, Jimmy, Bandaragoda, Christina, Istanbulluoglu, Erkan, Beveridge, Claire, Strauch, Ronda, Setiawan, Landung, Mooney, Sean D.

Source: In Environmental Modelling and Software June 2019 116:119-130

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Forecasting Future Asthma Hospital Encounters of Patients With Asthma in an Academic Health Care System: Predictive Model Development and Secondary Analysis Study

Authors: Tong, Yao, Messinger, Amanda I, Wilcox, Adam B, Mooney, Sean D, Davidson, Giana H, Suri, Pradeep, Luo, Gang

Source: Journal of Medical Internet Research, Vol 23, Iss 4, p e22796 (2021)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: https://www.jmir.org/2021/4/e22796; https://doaj.org/toc/1438-8871

Access URL: https://doaj.org/article/1aca889c637a4c1db47c8754103c7cf7

Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016

Authors: Clark, Wyatt T., Kasak, Laura, Bakolitsa, Constantina, Hu, Zhiqiang, Andreoletti, Gaia, Babbi, Giulia, Bromberg, Yana, Casadio, Rita, Dunbrack, Roland, Folkman, Lukas, Ford, Colby T., Jones, David, Katsonis, Panagiotis, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier L., Mooney, Sean D., Nodzak, Conor, Pal, Lipika R., Radivojac, Predrag, Savojardo, Castrense, Shi, Xinghua, Zhou, Yaoqi, Uppal, Aneeta, Xu, Qifang, Yin, Yizhou, Pejaver, Vikas, Wang, Meng, Wei, Liping, Moult, John, Yu, Guoying Karen, Brenner, Steven E., LeBowitz, Jonathan H.

Source: Human mutation. 40(9):1519-1529

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088915299.0x000001&indx=1&recIds=ETOCvdc_100088915299.0x000001

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

Authors: Kasak, Laura, Hunter, Jesse M., Udani, Rupa, Bakolitsa, Constantina, Hu, Zhiqiang, Adhikari, Aashish N., Babbi, Giulia, Casadio, Rita, Gough, Julian, Guerrero, Rafael F., Jiang, Yuxiang, Joseph, Thomas, Katsonis, Panagiotis, Kotte, Sujatha, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Moult, John, Pal, Lipika R., Poitras, Jennifer, Radivojac, Predrag, Rao, Aditya, Sivadasan, Naveen, Sunderam, Uma, Saipradeep, V. G., Yin, Yizhou, Zaucha, Jan, Brenner, Steven E., Meyn, M. Stephen

Source: Human mutation. 40(9):1373-1391

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088915291.0x000001&indx=1&recIds=ETOCvdc_100088915291.0x000001

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

Authors: Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, Cruz, Xavier, Díez, Orland, Gutiérrez‐Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier L., Mishne, Gilad, Moles‐Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O'Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A., Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T., Spurdle, Amanda B., Goldgar, David E.

Source: Human mutation. 40(9):1546-1556

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088915273.0x000001&indx=1&recIds=ETOCvdc_100088915273.0x000001

Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants

Authors: Kasak, Laura, Bakolitsa, Constantina, Hu, Zhiqiang, Yu, Changhua, Rine, Jasper, Dimster‐Denk, Dago F., Pandey, Gaurav, Baets, Greet, Bromberg, Yana, Cao, Chen, Capriotti, Emidio, Casadio, Rita, Durme, Joost, Giollo, Manuel, Karchin, Rachel, Katsonis, Panagiotis, Leonardi, Emanuela, Lichtarge, Olivier, Martelli, Pier Luigi, Masica, David, Mooney, Sean D., Olatubosun, Ayodeji, Radivojac, Predrag, Rousseau, Frederic, Pal, Lipika R., Savojardo, Castrense, Schymkowitz, Joost, Thusberg, Janita, Tosatto, Silvio C.E., Vihinen, Mauno, Väliaho, Jouni, Repo, Susanna, Moult, John, Brenner, Steven E., Friedberg, Iddo

Source: Human mutation. 40(9):1530-1545

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088915277.0x000001&indx=1&recIds=ETOCvdc_100088915277.0x000001