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1دورية أكاديمية
المؤلفون: Ma, Fion, Wheeler, Allison, Zai, Clement, So, Joyce, Waung, Maggie
المصدر: Biology. 12(12)
مصطلحات موضوعية: adult-onset, complex neurological disease, genetic analysis, neurogenetic disease, next generation sequencing, personalized medicine, whole exome sequencing, whole genome sequencing
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8fw3n736Test
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2دورية أكاديمية
المؤلفون: Sanjaya, Prima, Maljanen, Katri, Katainen, Riku, Waszak, Sebastian, Aaltonen, Lauri, Stegle, Oliver, Korbel, Jan, Pitkänen, Esa
المصدر: Genome Medicine: medicine in the post-genomic era. 15(1)
مصطلحات موضوعية: Cancer genomics, Deep learning, Deep neural networks, Machine learning, Molecular tumour subtyping, Precision cancer medicine, Somatic mutations, Tumour type prediction, Whole exome sequencing, Whole genome sequencing, Neoplasms, Humans, Deep Learning, Benchmarking, Mutation
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7sw6g236Test
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3دورية أكاديمية
المؤلفون: Katerina Kvapilova, Pavol Misenko, Jan Radvanszky, Ondrej Brzon, Jaroslav Budis, Juraj Gazdarica, Ondrej Pos, Marie Korabecna, Martin Kasny, Tomas Szemes, Petr Kvapil, Jan Paces, Zbynek Kozmik
المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)
مصطلحات موضوعية: Genomics variant analysis, Saliva-derived gDNA, Whole genome sequencing, Whole exome sequencing, Validation guideline, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2164Test
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4دورية أكاديمية
المؤلفون: Hang-Jing Tan, Zi-Heng Deng, Hui Shen, Hong-Wen Deng, Hong-Mei Xiao
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: primordial follicle formation, single cell RNA sequencing, in vitro ovarian culture, premature ovarian insufficiency, whole exome sequencing, whole genome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1285667/fullTest; https://doaj.org/toc/1664-2392Test
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5دورية أكاديمية
المؤلفون: David Fielding, Vanessa Lakis, Andrew J. Dalley, Haarika Chittoory, Felicity Newell, Lambros T. Koufariotis, Ann-Marie Patch, Stephen Kazakoff, Farzad Bashirzadeh, Jung Hwa Son, Kimberley Ryan, Daniel Steinfort, Jonathan P. Williamson, Michael Bint, Carl Pahoff, Phan Tien Nguyen, Scott Twaddell, David Arnold, Christopher Grainge, Andrew Pattison, David Fairbairn, Shailendra Gune, Jemma Christie, Oliver Holmes, Conrad Leonard, Scott Wood, John V. Pearson, Sunil R. Lakhani, Nicola Waddell, Peter T. Simpson, Katia Nones
المصدر: Cancers, Vol 16, Iss 4, p 785 (2024)
مصطلحات موضوعية: fresh aspirates, whole genome sequencing, whole exome sequencing, TSO500, advanced lung cancer, EBUS-TBNA, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Amokelani C. Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A. Wilson, Jana Vandrovcova, Mary M. Reilly, Christopher J. Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M. Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M. Heckmann
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: whole exome sequencing, whole genome sequencing, Charcot-Marie-Tooth disease, hereditary spastic paraplegia, African, equity, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1239725/fullTest; https://doaj.org/toc/1664-2295Test
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7دورية أكاديمية
مصطلحات موضوعية: Health Services, Pediatric, Biotechnology, Human Genome, Prevention, Perinatal Period - Conditions Originating in Perinatal Period, Clinical Research, Pediatric Research Initiative, Genetic Testing, Genetics, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Good Health and Well Being, newborn screening, whole genome sequencing, whole exome sequencing, next-generation sequencing, recommended uniform screening panel, Paediatrics and Reproductive Medicine, Other Medical and Health Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2r1455p5Test
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8دورية أكاديمية
المؤلفون: Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F, Investigators, the RCIGM, Bainbridge, Matthew N, Barea, Jaime, Batalov, Sergey, Bezares, Zaira, Braun, Joshua JA, Del Campo, Miguel, Carroll, Jeanne, Cohenmeyer, Casey, Coufal, Nicole G, Diaz, Carlos, Ding, Yan, Ellsworth, Katarzyna, Evans, Marva, Feigenbaum, Annette, Friedman, Jennifer, Gleeson, Joe, Hansen, Christian, Honold, Jose, James, Kiely, Jones, Marilyn C, Kimball, Amy, Knight, Gail, Van Der Kraan, Lucitia, Lane, Brian, Le, Jennie, Leibel, Sandra, Lenberg, Jerica, Mashburn, Dana, Moyer, Laurel, Mulrooney, Patrick, Nahas, Shareef, Oh, Daeheon, Orendain, Daniken, Oriol, Albert, Ortiz-Arechiga, Maria, Prince, Lance, Rego, Seema, Reyes, Iris, Sanford, Erica, Sauer, Charles, Schwanemann, Leila, Speziale, Mark, Suttner, Denise, Sweeney, Nathaly, Song, Richard, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wong, Terence, Wright, Meredith S, Yamada, Catherine
المصدر: American Journal of Human Genetics. 107(5)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Health Sciences, Genetics, Clinical Trials and Supportive Activities, Clinical Research, Biotechnology, Infectious Diseases, Pediatric, Human Genome, Good Health and Well Being, Chromosome Mapping, Clinical Decision-Making, Critical Illness, Disease Management, Female, Genetic Diseases, Inborn, Genetic Testing, Genome, Human, Humans, Infant, Infant, Newborn, Intensive Care Units, Neonatal, Logistic Models, Male, Prospective Studies, Time Factors, Whole Genome Sequencing, RCIGM Investigators, NSIGHT2, clinical utility, diagnostic testing outcomes, healthcare cost-benefit analysis, neonatal intensive care unit, pediatric intensive care unit, rapid whole-exome sequencing, rapid whole-genome sequencing, ultra-rapid whole-genome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
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9دورية أكاديمية
المؤلفون: Bailey, Matthew H, Meyerson, William U, Dursi, Lewis Jonathan, Wang, Liang-Bo, Dong, Guanlan, Liang, Wen-Wei, Weerasinghe, Amila, Li, Shantao, Li, Yize, Kelso, Sean, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena, Gordon, Ellrott, Kyle, Wendl, Michael C, Wheeler, David A, Getz, Gad, Simpson, Jared T, Gerstein, Mark B, Ding, Li, PCAWG Consortium
المصدر: Nature communications. 11(1)
مصطلحات موضوعية: MC3 Working Group, PCAWG novel somatic mutation calling methods working group, PCAWG Consortium, Humans, Neoplasms, DNA, Intergenic, Retrospective Studies, Base Composition, Mutation, Genome, Human, Exons, Databases, Genetic, Exome, Whole Genome Sequencing, Whole Exome Sequencing, Cancer, Biotechnology, Genetics, Human Genome
الوصول الحر: https://escholarship.org/uc/item/198744d8Test
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10دورية أكاديمية
المؤلفون: Zhao, Shuang G, Chen, William S, Li, Haolong, Foye, Adam, Zhang, Meng, Sjöström, Martin, Aggarwal, Rahul, Playdle, Denise, Liao, Arnold, Alumkal, Joshi J, Das, Rajdeep, Chou, Jonathan, Hua, Junjie T, Barnard, Travis J, Bailey, Adina M, Chow, Eric D, Perry, Marc D, Dang, Ha X, Yang, Rendong, Moussavi-Baygi, Ruhollah, Zhang, Li, Alshalalfa, Mohammed, Laura Chang, S, Houlahan, Kathleen E, Shiah, Yu-Jia, Beer, Tomasz M, Thomas, George, Chi, Kim N, Gleave, Martin, Zoubeidi, Amina, Reiter, Robert E, Rettig, Matthew B, Witte, Owen, Yvonne Kim, M, Fong, Lawrence, Spratt, Daniel E, Morgan, Todd M, Bose, Rohit, Huang, Franklin W, Li, Hui, Chesner, Lisa, Shenoy, Tanushree, Goodarzi, Hani, Asangani, Irfan A, Sandhu, Shahneen, Lang, Joshua M, Mahajan, Nupam P, Lara, Primo N, Evans, Christopher P, Febbo, Phillip, Batzoglou, Serafim, Knudsen, Karen E, He, Housheng H, Huang, Jiaoti, Zwart, Wilbert, Costello, Joseph F, Luo, Jianhua, Tomlins, Scott A, Wyatt, Alexander W, Dehm, Scott M, Ashworth, Alan, Gilbert, Luke A, Boutros, Paul C, Farh, Kyle, Chinnaiyan, Arul M, Maher, Christopher A, Small, Eric J, Quigley, David A, Feng, Felix Y
المصدر: Nature genetics. 52(8)
مصطلحات موضوعية: Humans, Prostatic Neoplasms, Prospective Studies, Sequence Analysis, DNA, DNA Methylation, Gene Expression Regulation, Neoplastic, Mutation, Genome, Aged, Aged, 80 and over, Middle Aged, Male, Epigenomics, Carcinogenesis, Whole Genome Sequencing, Whole Exome Sequencing, Cancer, Urologic Diseases, Human Genome, Prostate Cancer, Biotechnology, Genetics, 2.1 Biological and endogenous factors, Developmental Biology, Biological Sciences, Medical and Health Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7h17w53vTest