المؤلفون: Tugce B. Balci, Michael Brudno, Willie H. Chang, Annie Olry, Peter N. Robinson, Sylvie Maiella, Brittney Johnstone, Mia Husić, Sarah L. Sawyer, Pouria Mashouri, Alexander X. Lozano, Ana Rath

المصدر: Genetics in Medicine. 22:1391-1400

مصطلحات موضوعية: 0301 basic medicine, Information retrieval, business.industry, Computer science, Gold standard (test), 030105 genetics & heredity, Crowdsourcing, 03 medical and health sciences, Annotation, Identification (information), 030104 developmental biology, Documentation, Knowledge base, Similarity (psychology), Web application, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fd91cdfd0cb1dfa117fbd8d0ffcc4347
https://doi.org/10.1038/s41436-020-0812-7

المؤلفون: Mack Lee, Hyojoon Kim, Willie H. Chang, Javed M. Aman, Xiaoqi Chen, Jennifer Rexford

المصدر: SPIN@SIGCOMM

مصطلحات موضوعية: Matching (graph theory), Campus network, Network packet, Computer science, 020204 information systems, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Real-time computing, 0202 electrical engineering, electronic engineering, information engineering, Forwarding plane, 020207 software engineering, 02 engineering and technology, Round-trip delay time, Network monitoring

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5cdb76fb36b4d3b4de114bce9762016d
https://doi.org/10.1145/3405669.3405823

المؤلفون: Willie H, Chang, Pouria, Mashouri, Alexander X, Lozano, Brittney, Johnstone, Mia, Husić, Annie, Olry, Sylvie, Maiella, Tugce B, Balci, Sarah L, Sawyer, Peter N, Robinson, Ana, Rath, Michael, Brudno

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(8)

مصطلحات موضوعية: Machine Learning, Phenotype, Knowledge Bases, Crowdsourcing, Humans, Students

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::404d0ebf53bb39f77286a0a62b831889
https://pubmed.ncbi.nlm.nih.gov/32555415

المؤلفون: Michael Brudno, Ana Rath, Alexander X. Lozano, Annie Olry, Tugce B. Balci, Sylvie Maiella, Sarah L. Sawyer, Peter N. Robinson, Brittney Johnstone, Pouria Mashouri, Mia Husić, Willie H. Chang

المصدر: Genetics in Medicine. 22:1427

مصطلحات موضوعية: Information retrieval, Computer science, business.industry, Published Erratum, MEDLINE, Crowdsourcing, business, Phenotype, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eb843727ba26a01b9ff3f6c6b1feff79
https://doi.org/10.1038/s41436-020-0866-6

المؤلفون: Kayli Rageth, Cynthia L. Smith, Renske Oegema, Julius O.B. Jacobsen, Xingmin Aaron Zhang, Kathleen E. Sullivan, James P. Balhoff, Ayushi Hegde, David Osumi-Sutherland, Gareth Baynam, Rachel Thompson, Matthew T. Wheeler, Cornelius F. Boerkoel, Hélène Dollfus, Nomi L. Harris, Daniel Durkin, Dorothée Leroux, Joshua D. Milner, Melissa A. Haendel, Annie Olry, Dylan Gratian, Nicolas Matentzoglu, Anna Jansen, David Gómez-Andrés, Zafer Yüksel, Hugh Dawkins, Peter N. Robinson, Ruth C. Lovering, Luigi D. Notarangelo, Michael M. Segal, Maria G. Della Rocca, Sergio Rosenzweig, Julie A. McMurry, Catherine Hajek, Francisco Castellanos, Valentina Cipriani, Willie H. Chang, Sergi Beltran, Ahmed Muaz, Leigh C. Carmody, Marc Hanauer, Jenna R.E. Bergerson, Hanns Lochmüller, Halima Lourghi, Tom Conlin, Charlotte Cunningham-Rundles, James R. Priest, Richard Palmer, Shruti Marwaha, Panagiotis I. Sergouniotis, Amy D. Klion, Alexandra F. Freeman, Morgan Similuk, Michael Brudno, Melody C. Carter, Stanley J. F. Laulederkind, Michael A. Gargano, Susan M. Bello, Tudor Groza, Christopher J. Mungall, Damian Smedley, Hannah Blau, Daniel Danis, Jean-Philippe F. Gourdine, Sebastian Köhler, Murat Sincan, Ana Rath, Nicole Vasilevsky, Andrea L. Storm

المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pediatrics

المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nucleic Acids Research, 47(D1), D1018. Oxford University Press
Nucleic Acids Research
Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, J O B, Danis, D, Gourdine, J P, Gargano, M, Harris, N L, Matentzoglu, N, McMurry, J A, Osumi-Sutherland, D, Cipriani, V, Balhoff, J P, Conlin, T, Blau, H, Baynam, G, Palmer, R, Gratian, D, Dawkins, H, Segal, M, Jansen, A C, Muaz, A, Chang, W H, Bergerson, J, Laulederkind, S J F, Yüksel, Z, Beltran, S, Freeman, A F, Sergouniotis, P I, Durkin, D, Storm, A L, Hanauer, M, Brudno, M, Bello, S M, Sincan, M, Rageth, K, Wheeler, M T, Oegema, R, Lourghi, H, Della Rocca, M G, Thompson, R, Castellanos, F, Priest, J, Cunningham-Rundles, C, Hegde, A, Lovering, R C, Hajek, C, Olry, A, Notarangelo, L & Similuk, M 2019, ' Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources ', Nucleic acids research, vol. 47, no. D1, pp. D1018-D1027 . https://doi.org/10.1093/nar/gky1105
Nucleic acids research, vol 47, iss D1
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: Vocabulary, media_common.quotation_subject, Knowledge Bases, Interoperability, Biology, Ontology (information science), Congenital Abnormalities, World Wide Web, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Information and Computing Sciences, Human Phenotype Ontology, Databases, Genetic, Genetics, Database Issue, Humans, Genetic Predisposition to Disease, 030304 developmental biology, media_common, 0303 health sciences, Internet, Whole Genome Sequencing, business.industry, Computational Biology, Genetic Variation, Biological Ontologies, Biological Sciences, 3. Good health, Phenotype, Knowledge base, The Internet, business, Environmental Sciences, 030217 neurology & neurosurgery, Developmental Biology, De facto standard

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b257ee3ebfb3ae3e9ecbc4f0bc47ed
https://ddd.uab.cat/record/223246