المؤلفون: Jain, Shantanu, Bakolitsa, Constantina, Brenner, Steven E, Radivojac, Predrag, Moult, John, Repo, Susanna, Hoskins, Roger A, Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, Kollipara, Naveen K, Ly, Melissa, Neumann, Andrew J, Pal, Lipika R, Odell, Eric, Pandey, Gaurav, Peters-Petrulewicz, Robin C, Srinivasan, Rajgopal, Yee, Stephen F, Yeleswarapu, Sri Jyothsna, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, Beer, Michael A, Hosur, Raghavendra, Peng, Jian, Bernard, Brady M, Berry, Michael, Dong, Shengcheng, Boyle, Alan P, Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, Han, James J, Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Cline, Melissa S, De Baets, Greet, Bonache, Sandra, Diez, Orland, Gutierrez-Enriquez, Sara, Fernandez, Alejandro, Montalban, Gemma, Ootes, Lars, Ozkan, Selen, Padilla, Natalia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, Huwe, Peter J, Wei, Qiong, Xu, Qifang, Dunbrack, Roland L, Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, Kulakovskiy, Ivan V, Makeev, Vsevolod J, Penzar, Dmitry D, Vorontsov, Ilya E, Favorov, Alexander V, Forman, Julia R, Hasenahuer, Marcia, Fornasari, Maria S, Parisi, Gustavo, Avsec, Ziga, Celik, Muhammed H, Thi, Yen Duong Nguyen, Gagneur, Julien, Shi, Fang-Yuan, Edwards, Matthew D, Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, Gifford, David K, Goke, Jonathan, Zaucha, Jan, Gough, Julian, Ritchie, Graham RS, Frankish, Adam, Mudge, Jonathan M, Harrow, Jennifer, Young, Erin L, Yu, Yao, Huff, Chad D, Murakami, Katsuhiko, Nagai, Yoko, Imanishi, Tadashi, Mungall, Christopher J, Jacobsen, Julius OB, Kim, Dongsup, Jeong, Chan-Seok, Jones, David T, Li, Mulin Jun, Guthrie, Violeta Beleva, Bhattacharya, Rohit, Chen, Yun-Ching, Douville, Christopher, Fan, Jean, Kim, Dewey, Masica, David, Niknafs, Noushin, Sengupta, Sohini, Tokheim, Collin, Turner, Tychele N, Yeo, Hui Ting Grace, Karchin, Rachel, Shin, Sunyoung, Welch, Rene, Keles, Sunduz, Li, Yue, Kellis, Manolis, Corbi-Verge, Carles, Strokach, Alexey V, Kim, Philip M, Klein, Teri E, Mohan, Rahul, Sinnott-Armstrong, Nicholas A, Wainberg, Michael, Kundaje, Anshul, Gonzaludo, Nina, Mak, Angel CY, Chhibber, Aparna, Lam, Hugo YK, Dahary, Dvir, Fishilevich, Simon, Lancet, Doron, Lee, Insuk, Bachman, Benjamin, Katsonis, Panagiotis, Lua, Rhonald C, Wilson, Stephen J, Lichtarge, Olivier, Bhat, Rajendra R, Sundaram, Laksshman, Viswanath, Vivek, Bellazzi, Riccardo, Nicora, Giovanna, Rizzo, Ettore, Limongelli, Ivan, Mezlini, Aziz M, Chang, Ray, Kim, Serra, Lai, Carmen, O'Connor, Robert, Topper, Scott, van den Akker, Jeroen, Zhou, Alicia Y, Zimmer, Anjali D, Mishne, Gilad, Bergquist, Timothy R, Breese, Marcus R, Guerrero, Rafael F, Jiang, Yuxiang, Kiga, Nikki, Li, Biao, Mort, Matthew, Pagel, Kymberleigh A, Pejaver, Vikas, Stamboulian, Moses H, Thusberg, Janita, Mooney, Sean D, Teerakulkittipong, Nuttinee, Cao, Chen, Kundu, Kunal, Yin, Yizhou, Yu, Chen-Hsin, Kleyman, Michael, Lin, Chiao-Feng, Stackpole, Mary, Mount, Stephen M, Eraslan, Gokcen, Mueller, Nikola S, Naito, Tatsuhiko, Rao, Aliz R, Azaria, Johnathan R, Brodie, Aharon, Ofran, Yanay, Garg, Aditi, Pal, Debnath, Hawkins-Hooker, Alex, Kenlay, Henry, Reid, John, Mucaki, Eliseos J, Rogan, Peter K, Schwarz, Jana M, Searls, David B, Lee, Gyu Rie, Seok, Chaok, Kramer, Andreas, Shah, Sohela, Huang, ChengLai V, Kirsch, Jack F, Shatsky, Maxim, Cao, Yue, Chen, Haoran, Karimi, Mostafa, Moronfoye, Oluwaseyi, Sun, Yuanfei, Shen, Yang, Shigeta, Ron, Ford, Colby T, Nodzak, Conor, Uppal, Aneeta, Shi, Xinghua, Joseph, Thomas, Kotte, Sujatha, Rana, Sadhna, Rao, Aditya, Saipradeep, VG, Sivadasan, Naveen, Sunderam, Uma, Stanke, Mario, Su, Andrew, Adzhubey, Ivan, Jordan, Daniel M, Sunyaev, Shamil, Rousseau, Frederic, Schymkowitz, Joost, Van Durme, Joost, Tavtigian, Sean V, Carraro, Marco, Giollo, Manuel, Tosatto, Silvio CE, Adato, Orit, Carmel, Liran, Cohen, Noa E, Fenesh, Izila, Holtzer, Iamar, Juven-Gershon, Tamar, Unger, Ron, Niroula, Abhishek, Olatubosun, Ayodeji, Valiaho, Jouni, Yang, Yang, Vihinen, Mauno, Wahl, Mary E, Chang, Billy, Chong, Ka Chun, Hu, Inchi, Sun, Rui, Wu, William Ka Kei, Xia, Xiaoxuan, Zee, Benny C, Wang, Maggie H, Wang, Meng, Wu, Chunlei, Lu, Yutong, Chen, Ken, Yang, Yuedong, Yates, Christopher M, Kreimer, Anat, Yan, Zhongxia, Yosef, Nir, Zhao, Huying, Wei, Zhipeng, Yao, Zhaomin, Zhou, Fengfeng, Folkman, Lukas, Zhou, Yaoqi, Daneshjou, Roxana, Altman, Russ B, Inoue, Fumitaka, Ahituv, Nadav, Arkin, Adam P, Lovisa, Federica, Bonvini, Paolo, Bowdin, Sarah, Gianni, Stefano, Mantuano, Elide, Minicozzi, Velia, Novak, Leonore, Pasquo, Alessandra, Pastore, Annalisa, Petrosino, Maria, Puglisi, Rita, Toto, Angelo, Veneziano, Liana, Chiaraluce, Roberta, Ball, Mad P, Bobe, Jason R, Church, George M, Consalvi, Valerio, Cooper, David N, Buckley, Bethany A, Sheridan, Molly B, Cutting, Garry R, Scaini, Maria Chiara, Cygan, Kamil J, Fredericks, Alger M, Glidden, David T, Neil, Christopher, Rhine, Christy L, Fairbrother, William G, Alontaga, Aileen Y, Fenton, Aron W, Matreyek, Kenneth A, Starita, Lea M, Fowler, Douglas M, Loescher, Britt-Sabina, Franke, Andre, Adamson, Scott I, Graveley, Brenton R, Gray, Joe W, Malloy, Mary J, Kane, John P, Kousi, Maria, Katsanis, Nicholas, Schubach, Max, Kircher, Martin, Tang, Paul LF, Kwok, Pui-Yan, Lathrop, Richard H, Clark, Wyatt T, Yu, Guoying K, LeBowitz, Jonathan H, Benedicenti, Francesco, Bettella, Elisa, Bigoni, Stefania, Cesca, Federica, Mammi, Isabella, Marino-Bus-Ije, Cristina, Milani, Donatella, Peron, Angela, Polli, Roberta, Sartori, Stefano, Stanzial, Franco, Ioldo, Irene, Turolla, Licia, Aspromonte, Maria C, Bellini, Mariagrazia, Leonardi, Emanuela, Liu, Xiaoming, Marshall, Christian, McCombie, W Richard, Elefanti, Lisa, Menin, Chiara, Meyn, M Stephen, Murgia, Alessandra, Nadeau, Kari CY, Neuhausen, Susan L, Nussbaum, Robert L, Pirooznia, Mehdi, Potash, James B, Dimster-Denk, Dago F, Rine, Jasper D, Sanford, Jeremy R, Snyder, Michael, Cole, Alina G, Sun, Song, Verby, Marta W, Weile, Jochen, Roth, Frederick P, Tewhey, Ryan, Sabeti, Pardis C, Campagna, Joan, Refaat, Marwan M, Wojciak, Julianne, Grubb, Soren, Schmitt, Nicole, Shendure, Jay, Spurdle, Amanda B, Stavropoulos, Dimitri J, Walton, Nephi A, Zandi, Peter P, Ziv, Elad, Burke, Wylie, Chen, Flavia, Carr, Lawrence R, Martinez, Selena, Paik, Jodi, Harris-Wai, Julie, Yarborough, Mark, Fullerton, Stephanie M, Koenig, Barbara A, McInnes, Gregory, Shigaki, Dustin, Chandonia, John-Marc, Furutsuki, Mabel, Kasak, Laura, Yu, Changhua, Chen, Rui, Friedberg, Iddo, Getz, Gad A, Cong, Qian, Kinch, Lisa N, Zhang, Jing, Grishin, Nick V, Voskanian, Alin, Kann, Maricel G, Tran, Elizabeth, Ioannidis, Nilah M, Hunter, Jesse M, Udani, Rupa, Cai, Binghuang, Morgan, Alexander A, Sokolov, Artem, Stuart, Joshua M, Minervini, Giovanni, Monzon, Alexander M, Batzoglou, Serafim, Butte, Atul J, Greenblatt, Marc S, Hart, Reece K, Hernandez, Ryan, Hubbard, Tim JP, Kahn, Scott, O'Donnell-Luria, Anne, Ng, Pauline C, Shon, John, Veltman, Joris, Zook, Justin M, The Critical Assessment of Genome Interpretation Consortium

المصدر: Genome Biology , 25 , Article 53. (2024)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10190952/1/CAGI,%20the%20Critical%20Assessment%20of%20Genome%20Interpretation,%20establishes%20progress%20and%20prospects%20for%20computational%20genetic%20variant.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10190952Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10190952/1/CAGI,%20the%20Critical%20Assessment%20of%20Genome%20Interpretation,%20establishes%20progress%20and%20prospects%20for%20computational%20genetic%20variant.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10190952Test/

المؤلفون: Nadendla, Suvarna, Jackson, Rebecca, Munro, James, Quaglia, Federica, Mészáros, Bálint, Olley, Dustin, Hobbs, Elizabeth T, Goralski, Stephen M, Chibucos, Marcus, Mungall, Christopher John, Tosatto, Silvio CE, Erill, Ivan, Giglio, Michelle G

المصدر: Nucleic Acids Research. 50(D1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Networking and Information Technology R&D (NITRD), 1.5 Resources and infrastructure (underpinning), Underpinning research, Computational Biology, Databases, Genetic, Gene Ontology, Humans, Molecular Sequence Annotation, Software, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/39c5b6rxTest

المؤلفون: Lazar, Tamas, Martínez-Pérez, Elizabeth, Quaglia, Federica, Hatos, András, Chemes, Lucía B, Iserte, Javier A, Méndez, Nicolás A, Garrone, Nicolás A, Saldaño, Tadeo E, Marchetti, Julia, Rueda, Ana Julia Velez, Bernadó, Pau, Blackledge, Martin, Cordeiro, Tiago N, Fagerberg, Eric, Forman-Kay, Julie D, Fornasari, Maria S, Gibson, Toby J, Gomes, Gregory-Neal W, Gradinaru, Claudiu C, Head-Gordon, Teresa, Jensen, Malene Ringkjøbing, Lemke, Edward A, Longhi, Sonia, Marino-Buslje, Cristina, Minervini, Giovanni, Mittag, Tanja, Monzon, Alexander Miguel, Pappu, Rohit V, Parisi, Gustavo, Ricard-Blum, Sylvie, Ruff, Kiersten M, Salladini, Edoardo, Skepö, Marie, Svergun, Dmitri, Vallet, Sylvain D, Varadi, Mihaly, Tompa, Peter, Tosatto, Silvio CE, Piovesan, Damiano

المصدر: Nucleic Acids Research. 49(D1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Generic health relevance, Databases, Protein, Humans, Intrinsically Disordered Proteins, Search Engine, Tumor Suppressor Protein p53, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0jm2h524Test

المؤلفون: Monzon, Alexander Miguel, Carraro, Marco, Chiricosta, Luigi, Reggiani, Francesco, Han, James, Ozturk, Kivilcim, Wang, Yanran, Miller, Maximilian, Bromberg, Yana, Capriotti, Emidio, Savojardo, Castrense, Babbi, Giulia, Martelli, Pier L, Casadio, Rita, Katsonis, Panagiotis, Lichtarge, Olivier, Carter, Hannah, Kousi, Maria, Katsanis, Nicholas, Andreoletti, Gaia, Moult, John, Brenner, Steven E, Ferrari, Carlo, Leonardi, Emanuela, Tosatto, Silvio CE

المصدر: Human Mutation. 40(9)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Schizophrenia, Genetics, Brain Disorders, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Autoantigens, Cell Cycle Proteins, Computational Biology, Databases, Genetic, Genetic Predisposition to Disease, Humans, Mutation, Missense, Neural Networks, Computer, Phenotype, Polymorphism, Single Nucleotide, bioinformatics tools, community challenge, critical assessment, effect prediction, missense mutations, variant interpretation, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/99s179ggTest

المؤلفون: 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 CE, Vihinen, Mauno, Väliaho, Jouni, Repo, Susanna, Moult, John, Brenner, Steven E, Friedberg, Iddo

المصدر: Human Mutation. 40(9)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Networking and Information Technology R&D (NITRD), Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Amino Acid Substitution, Computational Biology, Cystathionine, Cystathionine beta-Synthase, Homocysteine, Humans, Phenotype, Precision Medicine, CAGI challenge, critical assessment, cystathionine-beta-synthase, machine learning, phenotype prediction, single amino acid substitution, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5jc5662rTest

المؤلفون: Paysan-Lafosse, Typhaine, Blum, Matthias, Chuguransky, Sara, Grego, Tiago, Pinto, Beatriz Lázaro, Salazar, Gustavo A, Bileschi, Maxwell L, Bork, Peer, Bridge, Alan, Colwell, Lucy, Gough, Julian, Haft, Daniel H, Letunić, Ivica, Marchler-Bauer, Aron, Mi, Huaiyu, Natale, Darren A, Orengo, Christine A, Pandurangan, Arun P, Rivoire, Catherine, Sigrist, Christian JA, Sillitoe, Ian, Thanki, Narmada, Thomas, Paul D, Tosatto, Silvio CE, Wu, Cathy H, Bateman, Alex

مصطلحات موضوعية: Humans, Amino Acid Sequence, Artificial Intelligence, Databases, Protein, Internet, Proteins, Software

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/354201Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/354201Test

المؤلفون: Cai, Binghuang, Li, Biao, Kiga, Nikki, Thusberg, Janita, Bergquist, Timothy, Chen, Yun‐Ching, Niknafs, Noushin, Carter, Hannah, Tokheim, Collin, Beleva‐Guthrie, Violeta, Douville, Christopher, Bhattacharya, Rohit, Yeo, Hui Ting Grace, Fan, Jean, Sengupta, Sohini, Kim, Dewey, Cline, Melissa, Turner, Tychele, Diekhans, Mark, Zaucha, Jan, Pal, Lipika R, Cao, Chen, Yu, Chen‐Hsin, Yin, Yizhou, Carraro, Marco, Giollo, Manuel, Ferrari, Carlo, Leonardi, Emanuela, Tosatto, Silvio CE, Bobe, Jason, Ball, Madeleine, Hoskins, Roger A, Repo, Susanna, Church, George, Brenner, Steven E, Moult, John, Gough, Julian, Stanke, Mario, Karchin, Rachel, Mooney, Sean D

المصدر: Human Mutation. 38(9)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Biotechnology, Good Health and Well Being, Area Under Curve, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Human Genome Project, Humans, Phenotype, Quantitative Trait Loci, Whole Genome Sequencing, biomedical informatics, community challenge, critical assessment, genome, genome interpretation, open consent, personal genome project, phenotype, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9jj8d0fsTest

المؤلفون: Chandonia, John‐Marc, Adhikari, Aashish, Carraro, Marco, Chhibber, Aparna, Cutting, Garry R, Fu, Yao, Gasparini, Alessandra, Jones, David T, Kramer, Andreas, Kundu, Kunal, Lam, Hugo YK, Leonardi, Emanuela, Moult, John, Pal, Lipika R, Searls, David B, Shah, Sohela, Sunyaev, Shamil, Tosatto, Silvio CE, Yin, Yizhou, Buckley, Bethany A

المصدر: Human Mutation. 38(9)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Clinical Research, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Computational Biology, Databases, Genetic, Genetic Predisposition to Disease, Genetic Testing, Humans, Phenotype, Sequence Analysis, DNA, CAGI, genetic testing, phenotype prediction, variant interpretation, Genetics & Heredity, Clinical sciences

الوصول الحر: https://escholarship.org/uc/item/7035n632Test

المؤلفون: Finn, Robert D, Attwood, Teresa K, Babbitt, Patricia C, Bateman, Alex, Bork, Peer, Bridge, Alan J, Chang, Hsin-Yu, Dosztányi, Zsuzsanna, El-Gebali, Sara, Fraser, Matthew, Gough, Julian, Haft, David, Holliday, Gemma L, Huang, Hongzhan, Huang, Xiaosong, Letunic, Ivica, Lopez, Rodrigo, Lu, Shennan, Marchler-Bauer, Aron, Mi, Huaiyu, Mistry, Jaina, Natale, Darren A, Necci, Marco, Nuka, Gift, Orengo, Christine A, Park, Youngmi, Pesseat, Sebastien, Piovesan, Damiano, Potter, Simon C, Rawlings, Neil D, Redaschi, Nicole, Richardson, Lorna, Rivoire, Catherine, Sangrador-Vegas, Amaia, Sigrist, Christian, Sillitoe, Ian, Smithers, Ben, Squizzato, Silvano, Sutton, Granger, Thanki, Narmada, Thomas, Paul D, Tosatto, Silvio CE, Wu, Cathy H, Xenarios, Ioannis, Yeh, Lai-Su, Young, Siew-Yit, Mitchell, Alex L

المصدر: Nucleic Acids Research. 45(D1)

مصطلحات موضوعية: Generic health relevance, Computational Biology, Databases, Protein, Humans, Molecular Sequence Annotation, Phylogeny, Protein Interaction Domains and Motifs, Software, Environmental Sciences, Biological Sciences, Information and Computing Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8vz2w72xTest

المؤلفون: Hatos, Andras, Tosatto, Silvio CE, Vendruscolo, Michele, Fuxreiter, Monika

مصطلحات موضوعية: Humans, Amyloid, Mutation, Protein Conformation, Software

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/340072Test

الإتاحة: https://doi.org/10.17863/CAM.87500Test
https://www.repository.cam.ac.uk/handle/1810/340072Test