المؤلفون: Köhler, Sebastian, Vasilevsky, Nicole A, Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M, Boerkoel, Cornelius F, Boycott, Kym M, Brudno, Michael, Buske, Orion J, Chinnery, Patrick F, Cipriani, Valentina, Connell, Laureen E, Dawkins, Hugh JS, DeMare, Laura E, Devereau, Andrew D, de Vries, Bert BA, Firth, Helen V, Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A, James, Roger, Krause, Roland, Laulederkind, Stanley JF, Lochmüller, Hanns, Lyon, Gholson J, Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H, Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H, Segal, Michael, Sergouniotis, Panagiotis I, Sever, Richard, Smith, Cynthia L, Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke WM, Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius OB, Groza, Tudor, Smedley, Damian, Mungall, Christopher J, Haendel, Melissa, Robinson, Peter N

المصدر: Nucleic Acids Research. 45(D1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Networking and Information Technology R&D (NITRD), Human Genome, Good Health and Well Being, Algorithms, Biological Ontologies, Computational Biology, Genetic Association Studies, Genomics, Humans, Phenotype, Precision Medicine, Rare Diseases, Software, Translational Research, Biomedical, 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/2w17n1ntTest

المؤلفون: Spurdle, Amanda B, Greville-Heygate, Stephanie, Antoniou, Antonis C, Brown, Melissa, Burke, Leslie, de la Hoya, Miguel, Domchek, Susan, Dörk, Thilo, Firth, Helen V, Monteiro, Alvaro N, Mensenkamp, Arjen, Parsons, Michael T, Radice, Paolo, Robson, Mark, Tischkowitz, Marc, Tudini, Emma, Turnbull, Clare, Vreeswijk, Maaike Pg, Walker, Logan C, Tavtigian, Sean, Eccles, Diana M

مصطلحات موضوعية: cancer susceptibility, genetic variant, interpretation, reporting, vocabulary, Biomarkers, Tumor, Computational Biology, Gene Expression Profiling, Genes, BRCA1, BRCA2, Genetic Predisposition to Disease, Genetic Variation, Germ-Line Mutation, High-Throughput Nucleotide Sequencing, Humans, International Classification of Diseases, Neoplasms, Germ Cell and Embryonal, Terminology as Topic, Controlled

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/289788Test

الإتاحة: https://doi.org/10.17863/CAM.37028Test
https://www.repository.cam.ac.uk/handle/1810/289788Test

المؤلفون: Spurdle, Amanda B, Greville-Heygate, Stephanie, Antoniou, Antonis C, Brown, Melissa, Burke, Leslie, De La Hoya, Miguel, Domchek, Susan, Dörk, Thilo, Firth, Helen V, Monteiro, Alvaro N, Mensenkamp, Arjen, Parsons, Michael T, Radice, Paolo, Robson, Mark, Tischkowitz, Marc, Tudini, Emma, Turnbull, Clare, Vreeswijk, Maaike Pg, Walker, Logan C, Tavtigian, Sean, Eccles, Diana M

مصطلحات موضوعية: genetic variant, reporting, Gene Expression Profiling, Genes, BRCA2, Genes, BRCA1, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Neoplasms, Germ Cell and Embryonal, cancer susceptibility, 3. Good health, Vocabulary, Controlled, International Classification of Diseases, Terminology as Topic, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, interpretation, Germ-Line Mutation, vocabulary

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d8d1a5029e55affd5f17bd66816ceb2eTest

المؤلفون: Julia Foreman, Simon Brent, Daniel Perrett, Andrew P. Bevan, Sarah E. Hunt, Fiona Cunningham, Matthew E. Hurles, Helen V. Firth

المساهمون: Foreman, Julia [0000-0003-4567-2479], Brent, Simon [0000-0001-9145-1541], Perrett, Daniel [0000-0002-5479-9386], Bevan, Andrew P [0000-0002-0656-9164], Hunt, Sarah E [0000-0002-8350-1235], Cunningham, Fiona [0000-0002-7445-2419], Hurles, Matthew E [0000-0002-2333-7015], Firth, Helen V [0000-0002-6410-0882], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Interpretation (logic), Computer science, genotype phenotype correlation, variant interpretation, rare diseases, Computational biology, Genomics, Phenotype, Data type, genomic medicine, Matchmaker Exchange, whole-genome sequencing, Human Phenotype Ontology, Databases, Genetic, Genetics, DECIPHER, Humans, genetic disorders, whole-exome sequencing, Genetics (clinical), Software, Rare disease

وصف الملف: text/xml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a4765cb4a532010a0a92dce7cfb54c0Test