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1دورية أكاديمية
المؤلفون: Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan, on behalf of the ClinGen Somatic Cancer Working Group
المصدر: Genome Medicine, Vol 8, Iss 1, Pp 1-9 (2016)
مصطلحات موضوعية: Cancer genomics, Somatic variant interpretation, Data standard, Somatic variant curation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-016-0367-zTest; https://doaj.org/toc/1756-994XTest
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المؤلفون: Eric W Sayers, Evan E Bolton, J Rodney Brister, Kathi Canese, Jessica Chan, Donald C Comeau, Catherine M Farrell, Michael Feldgarden, Anna M Fine, Kathryn Funk, Eneida Hatcher, Sivakumar Kannan, Christopher Kelly, Sunghwan Kim, William Klimke, Melissa J Landrum, Stacy Lathrop, Zhiyong Lu, Thomas L Madden, Adriana Malheiro, Aron Marchler-Bauer, Terence D Murphy, Lon Phan, Shashikant Pujar, Sanjida H Rangwala, Valerie A Schneider, Tony Tse, Jiyao Wang, Jian Ye, Barton W Trawick, Kim D Pruitt, Stephen T Sherry
المصدر: Nucleic Acids Res
مصطلحات موضوعية: Genetics, Database Issue
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a57078e0f67eb3b452a111fba83e1926Test
https://europepmc.org/articles/PMC9825438Test/ -
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المؤلفون: Rama Maiti, Chao Chen, Douglas W. Hoffman, J. Bradley Holmes, Donna Maglott, Joseph Mitchell, Baoshan Gu, Garth Brown, Melissa J. Landrum, Brandi L. Kattman, Vitaly Lyoshin, Kuljeet Kaur, George Zhou, George R. Riley, Wonhee Jang, Jennifer Hart, Nuala A. O'Leary, Chunlei Liu, Valerie A. Schneider, Shanmuga Chitipiralla, Wenyao Shi, Zenith Maddipatla
المصدر: Nucleic Acids Research. 48:D835-D844
مصطلحات موضوعية: Internet, 0303 health sciences, Information retrieval, National Library of Medicine (U.S.), Genome, Human, computer.internet_protocol, Summary data, Genetic variants, Genetic Variation, Genomics, Biology, United States, Search Engine, 03 medical and health sciences, 0302 clinical medicine, Haplotypes, Databases, Genetic, Genetics, Database Issue, Humans, Disease, computer, 030217 neurology & neurosurgery, XML, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9f58f2682783bb59503185682ef016dTest
https://doi.org/10.1093/nar/gkz972Test -
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المؤلفون: Sharon E. Plon, Lillian Ashmore, Aleksandar Milosavljevic, Peter B. McGarvey, Jimmy Zhen, Selina S. Dwight, Chris Bizon, Bradford C. Powell, Neethu Shah, Robert R. Freimuth, Clinical Genome (ClinGen) Resource, Piotr Pawliczek, Tristan Nelson, Matthew Wright, Ronak Y. Patel, Melissa J. Landrum, Sameer Paithankar, Andrew R. Jackson, Larry Babb, Natasha T. Strande
المصدر: Human Mutation
مصطلحات موضوعية: Special Issue Articles, 0301 basic medicine, Representational state transfer, Informatics, HGVS representation, dbSNP, Hypertext Transfer Protocol, computer.internet_protocol, variant centric resources, Biology, 03 medical and health sciences, Databases, Genetic, Genetics, Humans, Registries, variant identifiers, Alleles, Genetics (clinical), Information retrieval, Application programming interface, Genetic Variation, linked data, Linked data, Object (computer science), Identifier, 030104 developmental biology, pathogenicity of genetic variants, Canonicalization, computer, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b8e3f9cc5307d0ed5bbd1b51fb1fe1dTest
https://doi.org/10.1002/humu.23637Test -
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المؤلفون: Jennifer M. Lee, George R. Riley, Chen Chao, Kurt McDaniel, Brandi L. Kattman, Donna Maglott, Zenith Maddipatla, Melissa J. Landrum, Baoshan Gu, Douglas W. Hoffman, Kenneth S. Katz, Garth Brown, J. Bradley Holmes, Mark L. Benson, George Zhou, Karen Karapetyan, Chunlei Liu, Shanmuga Chitipiralla, Michael Ovetsky, Malheiro Aj, Wonhee Jang, Jennifer Hart
المصدر: Nucleic Acids Research
مصطلحات موضوعية: 0301 basic medicine, Variant Call Format, Information retrieval, medicine.diagnostic_test, computer.internet_protocol, MEDLINE, Genetic variants, Genetic Variation, Biology, Set (abstract data type), 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Phenotype, 030220 oncology & carcinogenesis, Genetics, medicine, Database Issue, Humans, Disease, Databases, Nucleic Acid, computer, XML, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093ae270a1616614cdabe12da24c0614Test
http://europepmc.org/articles/PMC5753237Test -
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المؤلفون: Wonhee Jang, Melissa J. Landrum, Kuljeet Kaur, Vitaly Lyoshin, Andrew Russette, Chao Chen, Zenith Maddipatla, Baoshan Gu, Shanmuga Chitipiralla, Joseph Mitchell, Brandi L. Kattman, Douglas W. Hoffman
المصدر: Molecular Genetics and Metabolism. 132:S150
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc2d3761409df29645da0f8d027d46a3Test
https://doi.org/10.1016/s1096-7192Test(21)00320-6 -
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المؤلفون: Juliann M. Savatt, Brandi L. Kattman, David H. Ledbetter, Melissa J. Landrum, Christa Lese Martin, W. Andrew Faucett, Jo Anne Vidal, Heidi L. Rehm, Jennifer Hart, Jud Rhode, Stefanie Turner, Emily Palen, Karen E. Wain, Vanessa Rangel Miller, Danielle R. Azzariti, Steven M. Harrison, Erin Rooney Riggs
مصطلحات موضوعية: 0301 basic medicine, Matching (statistics), Genomics, Biology, Article, 03 medical and health sciences, Resource (project management), Databases, Genetic, Genetics, medicine, Humans, Genetic Testing, Genetics (clinical), Genetic testing, Medical education, medicine.diagnostic_test, Patient registry, business.industry, Genome, Human, Information Dissemination, Genetic Variation, Data sharing, 030104 developmental biology, Exchange of information, Knowledge base, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::445be7de51d7da29ef235a6025c28d4aTest
https://europepmc.org/articles/PMC6188701Test/ -
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المؤلفون: Barbara Robbertse, Patrick Masterson, Jinna Choi, Sanjida H. Rangwala, Vyacheslav Brover, Olga Blinkova, Stacy Ciufo, Kim D. Pruitt, Conrad L. Schoch, Daniel H. Haft, Kelly M. McGarvey, Richard McVeigh, Raymond E. Tully, Bhanu Rajput, Alexander Astashyn, Vinita Joardar, Wratko Hlavina, Vamsi K. Kodali, Kathleen O'Neill, Danso Ako-adjei, Hanzhen Sun, Craig Wallin, Mathew W. Wright, Michael DiCuccio, Daniel Rausch, Catherine M. Farrell, Susan S. Storz, Avi Kimchi, Terence Murphy, Tripti Gupta, Eneida L. Hatcher, Donna Maglott, Shashikant Pujar, Brian Smith-White, David Webb, Nuala A. O'Leary, Wenjun Li, Michael R. Murphy, Igor Tolstoy, Françoise Thibaud-Nissen, Diana Haddad, Olga Ermolaeva, Azat Badretdin, Andrei Shkeda, Lillian D. Riddick, Tatiana Tatusova, Wendy Wu, Melissa J. Landrum, Vyacheslav Chetvernin, Tamara Goldfarb, Anjana R. Vatsan, Paul Kitts, J. Rodney Brister, Yiming Bao, Eric Cox
المصدر: Nucleic Acids Research
مصطلحات موضوعية: 0301 basic medicine, Nematoda, Genomics, Genome, Viral, Biology, computer.software_genre, Mice, 03 medical and health sciences, Sequence Analysis, Protein, Databases, Genetic, Genetics, RefSeq, Animals, Humans, Database Issue, Phylogeny, Comparative genomics, Database, Genome, Human, Sequence Analysis, RNA, GENCODE, Gene Expression Profiling, Molecular Sequence Annotation, Genome project, Reference Standards, Invertebrates, Rats, Genome, Microbial, 030104 developmental biology, Vertebrates, Cattle, RNA, Long Noncoding, Human genome, Genome, Fungal, computer, Genome, Plant, Reference genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa63f34080e34e61b5a99d6a1c2b83dTest
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المؤلفون: Fiona Hyland, Elizabeth A. Worthey, Mollie Ullman-Cullere, Ira M. Lubin, John D. Pfeifer, Karl V. Voelkerding, Edward R. Lockhart, Gabor T. Marth, Shaun Cordes, Alexander Wait Zaranek, Deanna M. Church, Dennis G. Ballinger, Himani Bisht, Karen Eilbeck, R Truty, Nazneen Aziz, Lisa V. Kalman, Zivana Tezak, Heidi L. Rehm, Lawrence J. Babb, Donna Maglott, Justin M. Zook, Melissa J. Landrum, Somak Roy
مصطلحات موضوعية: 0301 basic medicine, Flexibility (engineering), Information retrieval, Sequence analysis, Computer science, media_common.quotation_subject, Genetic Variation, High-Throughput Nucleotide Sequencing, Regular Article, Variation (game tree), Ambiguity, Sequence Analysis, DNA, Bioinformatics, Pathology and Forensic Medicine, Variety (cybernetics), 03 medical and health sciences, 030104 developmental biology, Databases, Genetic, Molecular Medicine, Humans, Workgroup, Software, Sequence (medicine), media_common, Reference genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e2cfff6ddd9b1a96eb0ca0e01820c59Test
https://europepmc.org/articles/PMC5417043Test/ -
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المؤلفون: Danielle R. Azzariti, Steven M. Harrison, Jennifer M. Lee, Erin Rooney Riggs, Erin M. Ramos, Donna Maglott, Annie Niehaus, Melissa J. Landrum, Heidi L. Rehm, Christa Lese Martin
المصدر: Current Protocols in Human Genetics
مصطلحات موضوعية: 0301 basic medicine, Information retrieval, Genome, Human, Computer science, Interpretation (philosophy), Genetic Variation, computer.software_genre, Article, Data sharing, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Resource (project management), 030220 oncology & carcinogenesis, Databases, Genetic, Genetics, Humans, Data mining, computer, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f4b28862019893f7eba787986d6757Test
https://doi.org/10.1002/0471142905.hg0816s89Test