GA4GH Phenopackets: A Practical Introduction

por Ladewig, Markus S., Jacobsen, Julius O. B., Wagner, Alex H., Danis, Daniel, El Kassaby, Baha, Gargano, Michael, Groza, Tudor, Baudis, Michael, Steinhaus, Robin, Seelow, Dominik, Bechrakis, Nikolaos E., Mungall, Christopher J., Schofield, Paul N., Elemento, Olivier, Smith, Lindsay, McMurry, Julie A., Munoz‐Torres, Monica, Haendel, Melissa A., Robinson, Peter N.
Publicado 2022

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon

por Haendel, Melissa A, Balhoff, James P, Bastian, Frederic B, Blackburn, David C, Blake, Judith A, Bradford, Yvonne, Comte, Aurelie, Dahdul, Wasila M, Dececchi, Thomas A, Druzinsky, Robert E, Hayamizu, Terry F, Ibrahim, Nizar, Lewis, Suzanna E, Mabee, Paula M, Niknejad, Anne, Robinson-Rechavi, Marc, Sereno, Paul C, Mungall, Christopher J
Publicado 2014

Risk factors associated with post-acute sequelae of SARS-CoV-2: an N3C and NIH RECOVER study

por Hill, Elaine L., Mehta, Hemalkumar B., Sharma, Suchetha, Mane, Klint, Singh, Sharad Kumar, Xie, Catherine, Cathey, Emily, Loomba, Johanna, Russell, Seth, Spratt, Heidi, DeWitt, Peter E., Ammar, Nariman, Madlock-Brown, Charisse, Brown, Donald, McMurry, Julie A., Chute, Christopher G., Haendel, Melissa A., Moffitt, Richard, Pfaff, Emily R., Bennett, Tellen D.
Publicado 2023

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

por D'Angelo, Carla S., Hermes, Azure, McMaster, Christopher R., Prichep, Elissa, Richer, Étienne, van der Westhuizen, Francois H., Repetto, Gabriela M., Mengchun, Gong, Malherbe, Helen, Reichardt, Juergen K. V., Arbour, Laura, Hudson, Maui, du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Thomas, Yarlalu, Baynam, Gareth
Publicado 2020

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

por Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A
Publicado 2021

Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

por Links, Amanda E., Draper, David, Lee, Elizabeth, Guzman, Jessica, Valivullah, Zaheer, Maduro, Valerie, Lebedev, Vlad, Didenko, Maxim, Tomlin, Garrick, Brudno, Michael, Girdea, Marta, Dumitriu, Sergiu, Haendel, Melissa A., Mungall, Christopher J., Smedley, Damian, Hochheiser, Harry, Arnold, Andrew M., Coessens, Bert, Verhoeven, Steven, Bone, William, Adams, David, Boerkoel, Cornelius F., Gahl, William A., Sincan, Murat
Publicado 2016

Children with SARS-CoV-2 in the National COVID Cohort Collaborative (N3C)

por Martin, Blake, DeWitt, Peter E., Russell, Seth, Anand, Adit, Bradwell, Katie R., Bremer, Carolyn, Gabriel, Davera, Girvin, Andrew T., Hajagos, Janos G., McMurry, Julie A., Neumann, Andrew J., Pfaff, Emily R., Walden, Anita, Wooldridge, Jacob T., Yoo, Yun Jae, Saltz, Joel, Gersing, Ken R., Chute, Christopher G., Haendel, Melissa A., Moffitt, Richard, Bennett, Tellen D.
Publicado 2021

Characteristics, Outcomes, and Severity Risk Factors Associated With SARS-CoV-2 Infection Among Children in the US National COVID Cohort Collaborative

por Martin, Blake, DeWitt, Peter E., Russell, Seth, Anand, Adit, Bradwell, Katie R., Bremer, Carolyn, Gabriel, Davera, Girvin, Andrew T., Hajagos, Janos G., McMurry, Julie A., Neumann, Andrew J., Pfaff, Emily R., Walden, Anita, Wooldridge, Jacob T., Yoo, Yun Jae, Saltz, Joel, Gersing, Ken R., Chute, Christopher G., Haendel, Melissa A., Moffitt, Richard, Bennett, Tellen D.
Publicado 2022

Who is pregnant? defining real-world data-based pregnancy episodes in the National COVID Cohort Collaborative (N3C)

por Jones, Sara, Bradwell, Katie R., Chan, Lauren E., Olson-Chen, Courtney, Tarleton, Jessica, Wilkins, Kenneth J., Qin, Qiuyuan, Faherty, Emily Groene, Lau, Yan Kwan, Xie, Catherine, Kao, Yu-Han, Liebman, Michael N., Mariona, Federico, Challa, Anup, Li, Li, Ratcliffe, Sarah J., McMurry, Julie A., Haendel, Melissa A., Patel, Rena C., Hill, Elaine L.
Publicado 2022

Challenges in defining Long COVID: Striking differences across literature, Electronic Health Records, and patient-reported information

por Rando, Halie M., Bennett, Tellen D., Byrd, James Brian, Bramante, Carolyn, Callahan, Tiffany J., Chute, Christopher G., Davis, Hannah E., Deer, Rachel, Gagnier, Joel, Koraishy, Farrukh M, Liu, Feifan, McMurry, Julie A., Moffitt, Richard A., Pfaff, Emily R., Reese, Justin T., Relevo, Rose, Robinson, Peter N., Saltz, Joel H., Solomonides, Anthony, Sule, Anupam, Topaloglu, Umit, Haendel, Melissa A.
Publicado 2021

NSAID use and clinical outcomes in COVID-19 patients: A 38-center retrospective cohort study

por Reese, Justin T., Coleman, Ben, Chan, Lauren, Blau, Hannah, Callahan, Tiffany J., Cappelletti, Luca, Fontana, Tommaso, Bradwell, Katie Rebecca, Harris, Nomi L., Casiraghi, Elena, Valentini, Giorgio, Karlebach, Guy, Deer, Rachel, McMurry, Julie A., Haendel, Melissa A., Chute, Christopher G., Pfaff, Emily, Moffitt, Richard, Spratt, Heidi, Singh, Jasvinder, Mungall, Christopher J., Williams, Andrew E., Robinson, Peter N.
Publicado 2021

NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study

por Reese, Justin T., Coleman, Ben, Chan, Lauren, Blau, Hannah, Callahan, Tiffany J., Cappelletti, Luca, Fontana, Tommaso, Bradwell, Katie R., Harris, Nomi L., Casiraghi, Elena, Valentini, Giorgio, Karlebach, Guy, Deer, Rachel, McMurry, Julie A., Haendel, Melissa A., Chute, Christopher G., Pfaff, Emily, Moffitt, Richard, Spratt, Heidi, Singh, Jasvinder A., Mungall, Christopher J., Williams, Andrew E., Robinson, Peter N.
Publicado 2022

Harmonizing units and values of quantitative data elements in a very large nationally pooled electronic health record (EHR) dataset

por Bradwell, Katie R, Wooldridge, Jacob T, Amor, Benjamin, Bennett, Tellen D, Anand, Adit, Bremer, Carolyn, Yoo, Yun Jae, Qian, Zhenglong, Johnson, Steven G, Pfaff, Emily R, Girvin, Andrew T, Manna, Amin, Niehaus, Emily A, Hong, Stephanie S, Zhang, Xiaohan Tanner, Zhu, Richard L, Bissell, Mark, Qureshi, Nabeel, Saltz, Joel, Haendel, Melissa A, Chute, Christopher G, Lehmann, Harold P, Moffitt, Richard A
Publicado 2022

Who is pregnant? Defining real-world data-based pregnancy episodes in the National COVID Cohort Collaborative (N3C)

por Jones, Sara E, Bradwell, Katie R, Chan, Lauren E, McMurry, Julie A, Olson-Chen, Courtney, Tarleton, Jessica, Wilkins, Kenneth J, Ly, Victoria, Ljazouli, Saad, Qin, Qiuyuan, Faherty, Emily Groene, Lau, Yan Kwan, Xie, Catherine, Kao, Yu-Han, Liebman, Michael N, Mariona, Federico, Challa, Anup P, Li, Li, Ratcliffe, Sarah J, Haendel, Melissa A, Patel, Rena C, Hill, Elaine L
Publicado 2023

An open natural language processing (NLP) framework for EHR-based clinical research: a case demonstration using the National COVID Cohort Collaborative (N3C)

por Liu, Sijia, Wen, Andrew, Wang, Liwei, He, Huan, Fu, Sunyang, Miller, Robert, Williams, Andrew, Harris, Daniel, Kavuluru, Ramakanth, Liu, Mei, Abu-el-Rub, Noor, Schutte, Dalton, Zhang, Rui, Rouhizadeh, Masoud, Osborne, John D, He, Yongqun, Topaloglu, Umit, Hong, Stephanie S, Saltz, Joel H, Schaffter, Thomas, Pfaff, Emily, Chute, Christopher G, Duong, Tim, Haendel, Melissa A, Fuentes, Rafael, Szolovits, Peter, Xu, Hua, Liu, Hongfang
Publicado 2023

CLO: The cell line ontology

por Sarntivijai, Sirarat, Lin, Yu, Xiang, Zuoshuang, Meehan, Terrence F, Diehl, Alexander D, Vempati, Uma D, Schürer, Stephan C, Pang, Chao, Malone, James, Parkinson, Helen, Liu, Yue, Takatsuki, Terue, Saijo, Kaoru, Masuya, Hiroshi, Nakamura, Yukio, Brush, Matthew H, Haendel, Melissa A, Zheng, Jie, Stoeckert, Christian J, Peters, Bjoern, Mungall, Christopher J, Carey, Thomas E, States, David J, Athey, Brian D, He, Yongqun
Publicado 2014

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

por Mungall, Christopher J., McMurry, Julie A., Köhler, Sebastian, Balhoff, James P., Borromeo, Charles, Brush, Matthew, Carbon, Seth, Conlin, Tom, Dunn, Nathan, Engelstad, Mark, Foster, Erin, Gourdine, J.P., Jacobsen, Julius O.B., Keith, Dan, Laraway, Bryan, Lewis, Suzanna E., NguyenXuan, Jeremy, Shefchek, Kent, Vasilevsky, Nicole, Yuan, Zhou, Washington, Nicole, Hochheiser, Harry, Groza, Tudor, Smedley, Damian, Robinson, Peter N., Haendel, Melissa A.
Publicado 2017

Implementation of Zebrafish Ontologies for Toxicology Screening

por Thessen, Anne E., Marvel, Skylar, Achenbach, J. C., Fischer, Stephan, Haendel, Melissa A., Hayward, Kimberly, Klüver, Nils, Könemann, Sarah, Legradi, Jessica, Lein, Pamela, Leong, Connor, Mylroie, J. Erik, Padilla, Stephanie, Perone, Dante, Planchart, Antonio, Prieto, Rafael Miñana, Muriana, Arantza, Quevedo, Celia, Reif, David, Ryan, Kristen, Stinckens, Evelyn, Truong, Lisa, Vergauwen, Lucia, Vom Berg, Colette, Wilbanks, Mitch, Yaghoobi, Bianca, Hamm, Jon
Publicado 2022

KG-Hub—building and exchanging biological knowledge graphs

por Caufield, J Harry, Putman, Tim, Schaper, Kevin, Unni, Deepak R, Hegde, Harshad, Callahan, Tiffany J, Cappelletti, Luca, Moxon, Sierra A T, Ravanmehr, Vida, Carbon, Seth, Chan, Lauren E, Cortes, Katherina, Shefchek, Kent A, Elsarboukh, Glass, Balhoff, Jim, Fontana, Tommaso, Matentzoglu, Nicolas, Bruskiewich, Richard M, Thessen, Anne E, Harris, Nomi L, Munoz-Torres, Monica C, Haendel, Melissa A, Robinson, Peter N, Joachimiak, Marcin P, Mungall, Christopher J, Reese, Justin T
Publicado 2023

OBO Foundry in 2021: operationalizing open data principles to evaluate ontologies

por Jackson, Rebecca, Matentzoglu, Nicolas, Overton, James A, Vita, Randi, Balhoff, James P, Buttigieg, Pier Luigi, Carbon, Seth, Courtot, Melanie, Diehl, Alexander D, Dooley, Damion M, Duncan, William D, Harris, Nomi L, Haendel, Melissa A, Lewis, Suzanna E, Natale, Darren A, Osumi-Sutherland, David, Ruttenberg, Alan, Schriml, Lynn M, Smith, Barry, Stoeckert Jr., Christian J, Vasilevsky, Nicole A, Walls, Ramona L, Zheng, Jie, Mungall, Christopher J, Peters, Bjoern
Publicado 2021