المؤلفون: Unni, Deepak R., Moxon, Sierra A. T., Bada, Michael, Brush, Matthew, Bruskiewich, Richard, Clemons, Paul, Dancik, Vlado, Dumontier, Michel, Fecho, Karamarie, Glusman, Gustavo, Hadlock, Jennifer J., Harris, Nomi L., Joshi, Arpita, Putman, Tim, Qin, Guangrong, Ramsey, Stephen A., Shefchek, Kent A., Solbrig, Harold, Soman, Karthik, Thessen, Anne T., Haendel, Melissa A., Bizon, Chris, Mungall, Christopher J., Consortium, the Biomedical Data Translator

مصطلحات موضوعية: Computer Science - Databases

URL الوصول: http://arxiv.org/abs/2203.13906

المؤلفون: Matentzoglu, Nicolas, Balhoff, James P., Bello, Susan M., Bizon, Chris, Brush, Matthew, Callahan, Tiffany J., Chute, Christopher G, Duncan, William D., Evelo, Chris T., Gabriel, Davera, Graybeal, John, Gray, Alasdair, Gyori, Benjamin M., Haendel, Melissa, Harmse, Henriette, Harris, Nomi L., Harrow, Ian, Hegde, Harshad, Hoyt, Amelia L., Hoyt, Charles T., Jiao, Dazhi, Jiménez-Ruiz, Ernesto, Jupp, Simon, Kim, Hyeongsik, Koehler, Sebastian, Liener, Thomas, Long, Qinqin, Malone, James, McLaughlin, James A., McMurry, Julie A., Moxon, Sierra, Munoz-Torres, Monica C., Osumi-Sutherland, David, Overton, James A., Peters, Bjoern, Putman, Tim, Queralt-Rosinach, Núria, Shefchek, Kent, Solbrig, Harold, Thessen, Anne, Tudorache, Tania, Vasilevsky, Nicole, Wagner, Alex H., Mungall, Christopher J.

مصطلحات موضوعية: Computer Science - Databases

URL الوصول: http://arxiv.org/abs/2112.07051

المؤلفون: Unni, Deepak R, Moxon, Sierra AT, Bada, Michael, Brush, Matthew, Bruskiewich, Richard, Caufield, J Harry, Clemons, Paul A, Dancik, Vlado, Dumontier, Michel, Fecho, Karamarie, Glusman, Gustavo, Hadlock, Jennifer J, Harris, Nomi L, Joshi, Arpita, Putman, Tim, Qin, Guangrong, Ramsey, Stephen A, Shefchek, Kent A, Solbrig, Harold, Soman, Karthik, Thessen, Anne E, Haendel, Melissa A, Bizon, Chris, Mungall, Christopher J, Consortium, The Biomedical Data Translator, Acevedo, Liliana, Ahalt, Stanley C, Alden, John, Alkanaq, Ahmed, Amin, Nada, Avila, Ricardo, Balhoff, Jim, Baranzini, Sergio E, Baumgartner, Andrew, Baumgartner, William, Belhu, Basazin, Brandes, MacKenzie, Brandon, Namdi, Burtt, Noel, Byrd, William, Callaghan, Jackson, Cano, Marco Alvarado, Carrell, Steven, Celebi, Remzi, Champion, James, Chen, Zhehuan, Chen, Mei‐Jan, Chung, Lawrence, Cohen, Kevin, Conlin, Tom, Corkill, Dan, Costanzo, Maria, Cox, Steven, Crouse, Andrew, Crowder, Camerron, Crumbley, Mary E, Dai, Cheng, Dančík, Vlado, De Miranda Azevedo, Ricardo, Deutsch, Eric, Dougherty, Jennifer, Duby, Marc P, Duvvuri, Venkata, Edwards, Stephen, Emonet, Vincent, Fehrmann, Nathaniel, Flannick, Jason, Foksinska, Aleksandra M, Gardner, Vicki, Gatica, Edgar, Glen, Amy, Goel, Prateek, Gormley, Joseph, Greyber, Alon, Haaland, Perry, Hanspers, Kristina, He, Kaiwen, Henrickson, Jeff, Hinderer, Eugene W, Hoatlin, Maureen, Hoffman, Andrew, Huang, Sui, Huang, Conrad, Hubal, Robert, Huellas‐Bruskiewicz, Kenneth, Huls, Forest B, Hunter, Lawrence, Hyde, Greg, Issabekova, Tursynay, Jarrell, Matthew, Jenkins, Lindsay, Johs, Adam, Kang, Jimin, Kanwar, Richa, Kebede, Yaphet, Kim, Keum Joo, Kluge, Alexandria, Knowles, Michael, Koesterer, Ryan

المصدر: Clinical and Translational Science. 15(8)

مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Networking and Information Technology R&D (NITRD), Data Science, 2.6 Resources and infrastructure (aetiology), Aetiology, Generic health relevance, Knowledge, Pattern Recognition, Automated, Translational Science, Biomedical, Biomedical Data Translator Consortium, Cardiorespiratory Medicine and Haematology, Oncology and Carcinogenesis, Other Medical and Health Sciences, General Clinical Medicine, Cardiovascular medicine and haematology, Pharmacology and pharmaceutical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5zf5q22w
https://escholarship.org/content/qt5zf5q22w/qt5zf5q22w.pdf

المؤلفون: Matentzoglu, Nicolas, Balhoff, James P, Bello, Susan M, Bizon, Chris, Brush, Matthew, Callahan, Tiffany J, Chute, Christopher G, Duncan, William D, Evelo, Chris T, Gabriel, Davera, Graybeal, John, Gray, Alasdair, Gyori, Benjamin M, Haendel, Melissa, Harmse, Henriette, Harris, Nomi L, Harrow, Ian, Hegde, Harshad B, Hoyt, Amelia L, Hoyt, Charles T, Jiao, Dazhi, Jiménez-Ruiz, Ernesto, Jupp, Simon, Kim, Hyeongsik, Koehler, Sebastian, Liener, Thomas, Long, Qinqin, Malone, James, McLaughlin, James A, McMurry, Julie A, Moxon, Sierra, Munoz-Torres, Monica C, Osumi-Sutherland, David, Overton, James A, Peters, Bjoern, Putman, Tim, Queralt-Rosinach, Núria, Shefchek, Kent, Solbrig, Harold, Thessen, Anne, Tudorache, Tania, Vasilevsky, Nicole, Wagner, Alex H, Mungall, Christopher J

مصطلحات موضوعية: Data Management and Data Science, Information and Computing Sciences, Networking and Information Technology R&D (NITRD), Data Science, Data Management, Databases, Factual, Metadata, Semantic Web, Workflow, Data Format, Library and Information Studies, Bioinformatics and computational biology, Data management and data science

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4hx8w0kk
https://escholarship.org/content/qt4hx8w0kk/qt4hx8w0kk.pdf

المؤلفون: Wagner, Alex H, Babb, Lawrence, Alterovitz, Gil, Baudis, Michael, Brush, Matthew, Cameron, Daniel L, Cline, Melissa, Griffith, Malachi, Griffith, Obi L, Hunt, Sarah E, Kreda, David, Lee, Jennifer M, Li, Stephanie, Lopez, Javier, Moyer, Eric, Nelson, Tristan, Patel, Ronak Y, Riehle, Kevin, Robinson, Peter N, Rynearson, Shawn, Schuilenburg, Helen, Tsukanov, Kirill, Walsh, Brian, Konopko, Melissa, Rehm, Heidi L, Yates, Andrew D, Freimuth, Robert R, Hart, Reece K

المصدر: Cell Genomics. 1(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/851111xr

المؤلفون: Rehm, Heidi L, Page, Angela JH, Smith, Lindsay, Adams, Jeremy B, Alterovitz, Gil, Babb, Lawrence J, Barkley, Maxmillian P, Baudis, Michael, Beauvais, Michael JS, Beck, Tim, Beckmann, Jacques S, Beltran, Sergi, Bernick, David, Bernier, Alexander, Bonfield, James K, Boughtwood, Tiffany F, Bourque, Guillaume, Bowers, Sarion R, Brookes, Anthony J, Brudno, Michael, Brush, Matthew H, Bujold, David, Burdett, Tony, Buske, Orion J, Cabili, Moran N, Cameron, Daniel L, Carroll, Robert J, Casas-Silva, Esmeralda, Chakravarty, Debyani, Chaudhari, Bimal P, Chen, Shu Hui, Cherry, J Michael, Chung, Justina, Cline, Melissa, Clissold, Hayley L, Cook-Deegan, Robert M, Courtot, Mélanie, Cunningham, Fiona, Cupak, Miro, Davies, Robert M, Denisko, Danielle, Doerr, Megan J, Dolman, Lena I, Dove, Edward S, Dursi, L Jonathan, Dyke, Stephanie OM, Eddy, James A, Eilbeck, Karen, Ellrott, Kyle P, Fairley, Susan, Fakhro, Khalid A, Firth, Helen V, Fitzsimons, Michael S, Fiume, Marc, Flicek, Paul, Fore, Ian M, Freeberg, Mallory A, Freimuth, Robert R, Fromont, Lauren A, Fuerth, Jonathan, Gaff, Clara L, Gan, Weiniu, Ghanaim, Elena M, Glazer, David, Green, Robert C, Griffith, Malachi, Griffith, Obi L, Grossman, Robert L, Groza, Tudor, Auvil, Jaime M Guidry, Guigó, Roderic, Gupta, Dipayan, Haendel, Melissa A, Hamosh, Ada, Hansen, David P, Hart, Reece K, Hartley, Dean Mitchell, Haussler, David, Hendricks-Sturrup, Rachele M, Ho, Calvin WL, Hobb, Ashley E, Hoffman, Michael M, Hofmann, Oliver M, Holub, Petr, Hsu, Jacob Shujui, Hubaux, Jean-Pierre, Hunt, Sarah E, Husami, Ammar, Jacobsen, Julius O, Jamuar, Saumya S, Janes, Elizabeth L, Jeanson, Francis, Jené, Aina, Johns, Amber L, Joly, Yann, Jones, Steven JM, Kanitz, Alexander, Kato, Kazuto, Keane, Thomas M, Kekesi-Lafrance, Kristina

المصدر: Cell Genomics. 1(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Clinical Research, Health Services, Generic health relevance, Good Health and Well Being

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6hn3v1t6

المؤلفون: Vita, Randi, Zheng, Jie, Jackson, Rebecca, Dooley, Damion, Overton, James A, Miller, Mark A, Berrios, Daniel C, Scheuermann, Richard H, He, Yongqun, McGinty, Hande Küçük, Brochhausen, Mathias, Lin, Aisyah Yu, Jain, Sagar B, Chibucos, Marcus C, Judkins, John, Giglio, Michelle G, Feng, Irene Y, Burns, Gully, Brush, Matthew H, Peters, Bjoern, Stoeckert, Christian J

مصطلحات موضوعية: Data Management and Data Science, Information and Computing Sciences, Biological Sciences, Bioinformatics and Computational Biology, Biological Ontologies, Language, Reference Standards, Data Format, Library and Information Studies, Bioinformatics and computational biology, Data management and data science

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4w0191hd

المؤلفون: Shefchek, Kent A, Harris, Nomi L, Gargano, Michael, Matentzoglu, Nicolas, Unni, Deepak, Brush, Matthew, Keith, Daniel, Conlin, Tom, Vasilevsky, Nicole, Zhang, Xingmin Aaron, Balhoff, James P, Babb, Larry, Bello, Susan M, Blau, Hannah, Bradford, Yvonne, Carbon, Seth, Carmody, Leigh, Chan, Lauren E, Cipriani, Valentina, Cuzick, Alayne, Rocca, Maria D, Dunn, Nathan, Essaid, Shahim, Fey, Petra, Grove, Chris, Gourdine, Jean-Phillipe, Hamosh, Ada, Harris, Midori, Helbig, Ingo, Hoatlin, Maureen, Joachimiak, Marcin, Jupp, Simon, Lett, Kenneth B, Lewis, Suzanna E, McNamara, Craig, Pendlington, Zoë M, Pilgrim, Clare, Putman, Tim, Ravanmehr, Vida, Reese, Justin, Riggs, Erin, Robb, Sofia, Roncaglia, Paola, Seager, James, Segerdell, Erik, Similuk, Morgan, Storm, Andrea L, Thaxon, Courtney, Thessen, Anne, Jacobsen, Julius OB, McMurry, Julie A, Groza, Tudor, Köhler, Sebastian, Smedley, Damian, Robinson, Peter N, Mungall, Christopher J, Haendel, Melissa A, Munoz-Torres, Monica C, Osumi-Sutherland, David

المصدر: Nucleic Acids Research. 48(D1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Networking and Information Technology R&D (NITRD), 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Algorithms, Animals, Biological Ontologies, Computational Biology, Databases, Genetic, Exome, Genetic Association Studies, Genetic Variation, Genomics, Genotype, Humans, Internet, Phenotype, Software, Translational Research, Biomedical, User-Computer Interface, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/76t158b7
https://escholarship.org/content/qt76t158b7/qt76t158b7.pdf

المؤلفون: Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C, Network, Undiagnosed Diseases, Acosta, Maria T, Adams, David R, Agrawal, Pankaj, Alejandro, Mercedes E, Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F, Bayrak-Toydemir, Pinar, Beggs, Alan H, Bejerano, Gill, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Botto, Lorenzo, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean-Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, Hayes, Nichole

المصدر: American Journal of Human Genetics. 105(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Axons, Cadherins, Corpus Callosum, Eye, Frameshift Mutation, Genitalia, Heart Defects, Congenital, Heterozygote, Humans, Neurodevelopmental Disorders, Undiagnosed Diseases Network, ACOG, CDH2, N-cadherin, cardiac defects, cell-cell adhesion, corpus callosum, eye defects, genital defects, intellectual disability, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/113843xk

المؤلفون: Shashi, Vandana, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T, Choi, Murim, Kontrogianni‐Konstantopoulos, Aikaterini, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean‐Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, Holm, Ingrid A

المصدر: Human Mutation. 40(8)

مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Adult, Arthrogryposis, Carrier Proteins, Child, Fathers, Female, Humans, Infant, Male, Models, Molecular, Mutation, Neuromuscular Diseases, Pedigree, Phenotype, Protein Conformation, Whole Genome Sequencing, arthrogryposis, hypotonia, MYBPC1, myopathy, myosin binding protein-C, tremor, Undiagnosed Diseases Network, Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/44k6m8qw