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المؤلفون: Nikki-Maria Koudis, Damian Smedley, Mychel Rpt Morais, Jamie M Ellingford, Antony Adamson, David R. Sherwood, Maryline Fresquet, Anna S. Li, Sandhya Srinivasan, Eric Hastie, Ranjay Jayadev, Richard W. Naylor, Rachel Lennon, Emily Williams, Raymond T. O'Keefe, Jack F. Ingham, Helen M. Stuart, Craig Lawless, Huw B. Thomas, Qiuyi Chi, Siddharth Banka
مصطلحات موضوعية: Basement membrane, Network complexity, medicine.anatomical_structure, biology, ADAMTS, medicine, Computational biology, biology.organism_classification, Gene, Genome, Phenotype, Zebrafish, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5abdb5d7cef4df1add0326719cc4136cTest
https://doi.org/10.1101/2021.10.25.465762Test -
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المؤلفون: Fiona Cunningham, Tracy Fletcher, David R. FitzPatrick, Sarah E. Hunt, Panagiotis I. Sergouniotis, Ana Carvalho, Graeme C.M. Black, Claire Hardcastle, Eva Lenassi, Anja Thormann, Jamie M Ellingford, Simon C Ramsden, Andrew R Webster, Michel Michaelides
مصطلحات موضوعية: Routine testing, business.industry, Medicine, Diagnostic test, Ensembl, Computational biology, Personalized medicine, Prospective cohort study, business, OPHTHALMIC DISORDERS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94eafc6ae8ecbbc1a78ebf42a452c702Test
https://doi.org/10.1101/2021.07.23.21261017Test -
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المؤلفون: Nicola Whiffin, William G. Newman, Jamie M Ellingford, Gillian I. Rice, Charlie Rowlands, H N Hall, Douglas Agl., Black Gcm., Tracy A Briggs, Algy Taylor, Raymond T. O'Keefe, Simon J. Hubbard, Diana Baralle
مصطلحات موضوعية: symbols.namesake, RNA splicing, Metric (mathematics), Gene expression, Mendelian inheritance, symbols, RNA-Seq, Context (language use), Computational biology, Biology, Gene, Deep sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::02c16066800d24873124b07be26aeac9Test
https://doi.org/10.1101/2021.03.19.21253973Test -
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المؤلفون: Ryan George, William G. Newman, D A Gokhale, Jamie M Ellingford, Graeme C.M. Black, Jonathan J Edgerley, Nicholas Machin, Stephen Ball, John H McDermott, Shazaad Ahmad
المصدر: eLife, Vol 10 (2021)
Ellingford, J M, George, R, Mcdermott, J H, Ahmad, S, Edgerley, J J, Gokhale, D, Newman, W G, Ball, S, Machin, N & Black, G C 2021, ' Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission ', eLife, vol. 10, e65453 . https://doi.org/10.7554/eLife.65453Test
eLifeمصطلحات موضوعية: 0301 basic medicine, Male, viruses, Genome, law.invention, Infectious Disease Transmission, Professional-to-Patient, 0302 clinical medicine, law, Infection control, 030212 general & internal medicine, Biology (General), Cross Infection, Microbiology and Infectious Disease, General Neuroscience, virus diseases, General Medicine, sequencing, Virus, Transmission (mechanics), Medicine, Female, Research Article, Human, Infectious Disease Transmission, Patient-to-Professional, QH301-705.5, Health Personnel, Science, Genomics, Computational biology, Biology, healthcare-associated, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, healthcare worker, Humans, genome, Aged, Whole genome sequencing, General Immunology and Microbiology, Whole Genome Sequencing, SARS-CoV-2, fungi, Outbreak, COVID-19, Genetics and Genomics, nosocomial, 030104 developmental biology, Infectious disease (medical specialty), Contact Tracing, Contact tracing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243397b5ae5821059695f61572817803Test
https://elifesciences.org/articles/65453Test -
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المؤلفون: Augusto Rendon, A. Kousathanas, S. E. A. Leigh, D. Kasperaviciute, R. Jackson, J. Pullinger, Richard H. Scott, T. Rahim, Graeme C.M. Black, C. A. Odhams, Simon C Ramsden, A. Siddiq, L. Lahnstein, S. R. Thompson, Huw B. Thomas, Jenny Lord, M. Bleda, M. J. Welland, L. Moutsianas, A. Giess, Jill Clayton-Smith, A. Stuckey, Panagiotis I. Sergouniotis, H. Brittain, K. Sawant, Arianna Tucci, A. Sosinsky, I. U. S. Leong, Nicole Gossan, William G. Newman, Christopher Campbell, Mark J. Caulfield, T. Rogers, Diana Baralle, Andrew G. L. Douglas, A. L. Taylor Tavares, N. Murugaesu, Gavin Arno, S. M. Wood, Louise J. Jones, Robert A. Hirst, Htoo A Wai, A. Hamblin, Glenda M. Beaman, P. O’Donovan, A. Sieghart, F. Maleady-Crowe, S. Henderson, M. Tanguy, Claire Hardcastle, C. R. Boustred, G. C. Chan, M. McEntagart, Beatriz Gomes-Silva, E. Williams, Andrew R. Webster, Ellen R A Thomas, T. Fowler, Christine Patch, Raymond T. O'Keefe, Elizabeth A. Jones, D. Perez-Gil, M. B. Pereira, R. Bevers, F. J. Lopez, Jamie M Ellingford, Kevin Webb, M. Kayikci, S. C. Smith, F. Boardman-Pretty, Charlie Rowlands, K. Witkowsa, P. Arumugam, A. C. Need, Tim Hubbard, J. C. Ambrose, M. Mueller, Christopher O'Callaghan, F. Minneci, K. Savage
المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)مصطلحات موضوعية: Prioritization, Genetic testing, Science, RNA Splicing, In silico, Computational biology, Biology, Article, Diagnosis, Differential, Human disease, Databases, Genetic, Diagnosis, RNA Precursors, Genetics, Humans, Disease, Clinical genetics, Medical diagnosis, Uncertain significance, Diagnostic Techniques and Procedures, Multidisciplinary, Disease genetics, Computational Biology, Genetic Variation, Diagnostic test, Exons, Genomics, Pathogenicity, Mutation, RNA splicing, Medicine, RNA Splice Sites, Algorithms
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab35c97f0d97111f801af95b74d199eTest
https://doi.org/10.22541/au.160157595.59675486Test -
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المؤلفون: Panagiotis I. Sergouniotis, Graeme C.M. Black, Nicholas Lench, Simon C Ramsden, Simon C. Lovell, Shalaw R. Sallah, Jamie M Ellingford
المصدر: Sallah, S R, Ellingford, J M, Sergouniotis, P I, Ramsden, S C, Lench, N, Lovell, S C & Black, G C 2021, ' Improving the clinical interpretation of missense variants in X linked genes using structural analysis ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107404Test
مصطلحات موضوعية: 0301 basic medicine, missense, Computer science, Mutation, Missense, Computational biology, 030105 genetics & heredity, 03 medical and health sciences, X-Linked Genes, Genes, X-Linked, Genetic variation, Genetics, Missense mutation, Humans, Genetics (clinical), clinical decision-making, structural homology, business.industry, Point mutation, Computational Biology, Pathogenicity, Prediction algorithms, 030104 developmental biology, genetic variation, Mutation (genetic algorithm), Personalized medicine, mutation, point mutation, protein, business, Algorithms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac61f7e02aa3088923c97ec452f8b3cTest
https://pubmed.ncbi.nlm.nih.gov/33766936Test -
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المؤلفون: Diana Baralle, Jamie M Ellingford, Charles F Rowlands
المصدر: Cells
مصطلحات موضوعية: 0301 basic medicine, Prioritization, RNA splicing, Computer science, In silico, Genomics, Context (language use), Review, Mendelian disease, Machine learning, computer.software_genre, Models, Biological, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, diagnostics, RNA Precursors, Humans, Genetic Predisposition to Disease, splice, genetics, variant prioritization, effect prediction, business.industry, variant interpretation, Computational Biology, Genetic Variation, Molecular Sequence Annotation, General Medicine, bioinformatics, 030104 developmental biology, genomic medicine, Spike (software development), Artificial intelligence, business, computer, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::576ffdcc34bc901bff5ee496f482d4cdTest
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المؤلفون: Charlie Rowlands, Simon C Ramsden, Christopher O'Callaghan, Kevin Webb, Graeme C.M. Black, Robert A. Hirst, Beatriz Gomes-Silva, Andrew R. Webster, Gavin Arno, Jamie M Ellingford, Claire Hardcastle, Huw B. Thomas, William G. Newman, Jill Clayton-Smith, Raymond T. O'Keefe, Christopher J. Campbell, Glenda M. Beaman, Elizabeth A. Jones, Nicole Gossan
مصطلحات موضوعية: 0303 health sciences, education.field_of_study, business.industry, In silico, Alternative splicing, Population, Context (language use), Computational biology, Biology, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, RNA splicing, Personalized medicine, business, education, Gene, Allele frequency, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ca12f81dee89eba6fc8f089a338bd4Test
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المؤلفون: Shalaw R. Sallah, Simon C Ramsden, Graeme C.M. Black, Panagiotis I. Sergouniotis, Mitra Kabir, Stephanie Barton, Nicholas Lench, Simon C. Lovell, Jamie M Ellingford, Amro Safadi, Rachel L. Taylor
المصدر: European Journal of Human Genetics
Sallah, S R, Sergouniotis, P I, Barton, S, Ramsden, S, Taylor, R L, Safadi, A, Kabir, M, Ellingford, J M, Lench, N, Lovell, S C & Black, G C M 2020, ' Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants : CACNA1F as an exemplar ', European Journal of Human Genetics, vol. 28, no. 9, pp. 1274-1282 . https://doi.org/10.1038/s41431-020-0623-yTestمصطلحات موضوعية: Genetic testing, Calcium Channels, L-Type, Computer science, In silico, Computational biology, Homology (biology), DNA sequencing, Article, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Humans, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Receiver operating characteristic, Calcium Channels, L-Type/chemistry, Sequence Alignment/methods, Genetic variants, Sequence Analysis, DNA, Incomplete congenital stationary night blindness, Pathogenicity, Sequence Analysis, DNA/methods, Structural Homology, Protein, Mutation, Precision and recall, Genetic databases, Sequence Alignment, Genetic Testing/methods, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd2c6a1665947a14b79b9929408165c7Test
https://pubmed.ncbi.nlm.nih.gov/32313206Test -
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المؤلفون: Kevin Webb, William G. Newman, Glenda M. Beaman, Christopher O'Callaghan, Graeme C.M. Black, Jamie M Ellingford, Robert A. Hirst
مصطلحات موضوعية: Disease gene, Whole genome sequencing, 0303 health sciences, Genomics, Computational biology, Biology, medicine.disease, Genome, Cystic fibrosis, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, RNA splicing, medicine, 030304 developmental biology, Primary ciliary dyskinesia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b85d75274ee24c15c8fd8831814f1879Test