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1دورية أكاديمية
المؤلفون: Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David Viskochil, John C. Carey, Laura Pace, Jim Bale, Stacey L. Clardy, Ashley Andrews, Lorenzo Botto, Gabor Marth
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David Viskochil, John C. Carey, Laura Pace, Jim Bale, Stacey L. Clardy, Ashley Andrews, Lorenzo Botto, Gabor Marth
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-1 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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3دورية أكاديمية
المؤلفون: Alistair Ward, Matt Velinder, Tonya Di Sera, Aditya Ekawade, Sabrina Malone Jenkins, Barry Moore, Rong Mao, Pinar Bayrak-Toydemir, Gabor Marth
المصدر: Journal of Personalized Medicine, Vol 12, Iss 1, p 73 (2022)
مصطلحات موضوعية: genomics, clinical, software, visualization, collaboration, diagnostics, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Alistair Ward, Mary A. Karren, Tonya Di Sera, Chase Miller, Matt Velinder, Yi Qiao, Francis M. Filloux, Betsy Ostrander, Russell Butterfield, Joshua L. Bonkowsky, Willard Dere, Gabor T. Marth
المصدر: Journal of Clinical and Translational Science, Vol 1, Pp 381-386 (2017)
مصطلحات موضوعية: Genome sequencing, disease variant identification, early infantile epileptic encephalopathy, web-based data analysis, clinical diagnostic variant analysis, Medicine
وصف الملف: electronic resource
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المؤلفون: Will Richards, Aditya Ekawade, Stacey L. Clardy, Jim Bale, Gabor T. Marth, Yi Qiao, John C. Carey, Anders Pitman, Ashley Andrews, Tonya Di Sera, Alistair Ward, Stephanie Georges, Lorenzo D. Botto, David Viskochil, Laura A. Pace, Chase Miller, Matt Velinder
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
medRxiv
Scientific Reportsمصطلحات موضوعية: Prioritization, Adult, Male, Vacuolar Proton-Translocating ATPases, Computer science, Science, Genetic counseling, Receptors, Cell Surface, Web tool, Article, Databases, Genetic, Exome Sequencing, Genetics, medicine, Web application, Humans, Exome, Genetic Testing, Medical diagnosis, Interrogation, Alleles, Genetic testing, Internet, Multidisciplinary, Molecular medicine, medicine.diagnostic_test, business.industry, Medical genetics, Computational Biology, Genomics, Sequence Analysis, DNA, Data science, Phenotype, Medicine, Table (database), business, Algorithms, Software
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29ca81a06fd91baf29593a3647edf06e
https://doi.org/10.21203/rs.3.rs-402434/v1 -
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المؤلفون: Betsy Ostrander, Francis Filloux, Chase Miller, Joshua L. Bonkowsky, Matt Velinder, Willard H. Dere, Tonya Di Sera, Russell J. Butterfield, Alistair Ward, Yi Qiao, Gabor T. Marth, Mary Anne Karren
المصدر: Journal of Clinical and Translational Science
مصطلحات موضوعية: 0301 basic medicine, Sequencing data, Computational biology, Biology, Genome sequencing, Genome, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, medicine, Computational analysis, Exome, Genetic testing, clinical diagnostic variant analysis, medicine.diagnostic_test, Brief Report, early infantile epileptic encephalopathy, General Medicine, 3. Good health, Early Infantile Epileptic Encephalopathy, web-based data analysis, 030104 developmental biology, Translational Research, Design and Analysis, Inherited disease, disease variant identification, 030217 neurology & neurosurgery
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7
المؤلفون: Maxime Vallée, Sean V. Tavtigian, David A. Nix, Russel Bell, Andrea Hoffman, Andrew M. Paquette, Amanda B. Spurdle, Tonya Di Sera, David E. Goldgar, Michael T. Parsons, Frans B. L. Hogervorst
المصدر: Human Mutation
مصطلحات موضوعية: 0301 basic medicine, Sequence analysis, unclassified variant, RNA Splicing, In silico, Mutation, Missense, cancer predisposition, Breast Neoplasms, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, Databases, Genetic, Genetics, Humans, Missense mutation, Computer Simulation, Genetic Predisposition to Disease, splice, rare variant, Gene, Research Articles, Genetics (clinical), BRCA2 Protein, BRCA1 Protein, variant of uncertain significance, Computational Biology, BRCA1, BRCA2, 3. Good health, 030104 developmental biology, Amino Acid Substitution, 030220 oncology & carcinogenesis, RNA splicing, Female, Research Article
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8
المؤلفون: Karen Eilbeck, Keith E. Simmon, Steven Flygare, Shawn Rynearson, Suxiang Tong, Gabor T. Marth, Krista Queen, Robert Schlaberg, Brett Kennedy, Yi Qiao, Chase Miller, Karl V. Voelkerding, Seema Jain, Carrie L. Byington, Chris Stockmann, Mark Yandell, Anne J. Blaschke, Erin H. Graf, Tonya Di Sera, Keith D. Tardif, Aurélie Kapusta, Andrew T. Pavia, Kwabena Krow Ampofo
المصدر: Genome Biology. 17(1)
مصطلحات موضوعية: 0301 basic medicine, Pathogen detection, 030106 microbiology, Computational biology, Web Browser, Biology, Transcriptome, User-Computer Interface, 03 medical and health sciences, Profiling (information science), Microbiome, Bacteria, Gene Expression Profiling, Fungi, High-Throughput Nucleotide Sequencing, Human genetics, 3. Good health, Gene expression profiling, 030104 developmental biology, ComputingMethodologies_PATTERNRECOGNITION, Metagenomics, Host-Pathogen Interactions, Viruses, User interface, Databases, Nucleic Acid, Algorithms, Software
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f12eae159c6e9374f0fccc74d25af1