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1دورية أكاديمية
المؤلفون: Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed, Hilda A. Pickett, Mohammad K. Al-Shinnag, Rachel L. Austin, Jo Burke, Elisa J. Cops, Cassandra B. Nichols, Annabel Goodwin, Marion T. Harris, Megan J. Higgins, Emilia L. Ip, Catherine Kiraly-Borri, Chiyan Lau, Julia L. Mansour, Michael W. Millward, Melissa J. Monnik, Nicholas S. Pachter, Abiramy Ragunathan, Rachel D. Susman, Sharron L. Townshend, Alison H. Trainer, Simon L. Troth, Katherine M. Tucker, Mathew J. Wallis, Maie Walsh, Rachel A. Williams, Ingrid M. Winship, Felicity Newell, Emma Tudini, John V. Pearson, Nicola K. Poplawski, Helen G. Mar Fan, Paul A. James, Amanda B. Spurdle, Nicola Waddell, Robyn L. Ward
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Familial cancer, Genetics, Variants, Whole-genome sequencing, Diagnostic testing, Health economics, Medicine, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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2دورية أكاديمية
المؤلفون: Jenette Creaney, Ann-Marie Patch, Venkateswar Addala, Sophie A. Sneddon, Katia Nones, Ian M. Dick, Y. C. Gary Lee, Felicity Newell, Ebony J. Rouse, Marjan M. Naeini, Olga Kondrashova, Vanessa Lakis, Apostolos Nakas, David Waller, Annabel Sharkey, Pamela Mukhopadhyay, Stephen H. Kazakoff, Lambros T. Koufariotis, Aimee L. Davidson, Priya Ramarao-Milne, Oliver Holmes, Qinying Xu, Conrad Leonard, Scott Wood, Sean M. Grimmond, Raphael Bueno, Dean A. Fennell, John V. Pearson, Bruce W. Robinson, Nicola Waddell
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-18 (2022)
مصطلحات موضوعية: Malignant pleural mesothelioma, Whole genome sequencing, RNA sequencing, Mutational signatures, Tumour micro-environment, Immunotherapy, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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3دورية أكاديمية
المؤلفون: Vanessa F. Bonazzi, Olga Kondrashova, Deborah Smith, Katia Nones, Asmerom T. Sengal, Robert Ju, Leisl M. Packer, Lambros T. Koufariotis, Stephen H. Kazakoff, Aimee L. Davidson, Priya Ramarao-Milne, Vanessa Lakis, Felicity Newell, Rebecca Rogers, Claire Davies, James Nicklin, Andrea Garrett, Naven Chetty, Lewis Perrin, John V. Pearson, Ann-Marie Patch, Nicola Waddell, Pamela M. Pollock
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
مصطلحات موضوعية: Endometrial cancer, Patient-derived xenografts, Genomic characterization, Mutational signatures, Genomic scarring, Tumor heterogeneity, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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المؤلفون: Daffodil M. Canson, Troy Dumenil, Michael T. Parsons, Tracy A. O’Mara, Aimee L. Davidson, Satomi Okano, Bethany Signal, Tim R. Mercer, Dylan M. Glubb, Amanda B. Spurdle
المصدر: Genetics in Medicine. 24:398-409
مصطلحات موضوعية: Neoplasms, RNA Splicing, Humans, Introns, Genetics (clinical), Genes, Neoplasm
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd1455aefff82832e94530573ba62a0
https://doi.org/10.1016/j.gim.2021.09.020 -
5SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion
المؤلفون: Daffodil M. Canson, Aimee L. Davidson, Miguel de la Hoya, Michael T. Parsons, Dylan M. Glubb, Olga Kondrashova, Amanda B. Spurdle
مصطلحات موضوعية: Statistics and Probability, Computational Mathematics, Computational Theory and Mathematics, Molecular Biology, Biochemistry, Computer Science Applications
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af4c86254aff02297a8091ab97f15dc
https://doi.org/10.1101/2022.07.30.502132 -
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المؤلفون: Aimee L. Davidson, Olga Kondrashova, Conrad Leonard, Scott Wood, Emma Tudini, Georgina E. Hollway, John V. Pearson, Felicity Newell, Amanda B. Spurdle, Nicola Waddell
المصدر: Human mutationREFERENCES. 43(12)
مصطلحات موضوعية: Genetics, Genetics (clinical)
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7
المؤلفون: John V. Pearson, Georgina E Hollway, Nicola Waddell, Felicity Newell, Aimee L Davidson, Lambros T. Koufariotis, Michael T. Parsons, Conrad Leonard, Amanda B. Spurdle
المصدر: Human Mutation. 42:530-536
مصطلحات موضوعية: Population, Computational biology, Biology, Germline, Cancer syndrome, Population genomics, 03 medical and health sciences, Gene Frequency, Neoplasms, Genetics, medicine, Humans, Genetic Testing, education, Gene, Allele frequency, Genetics (clinical), 030304 developmental biology, Whole genome sequencing, 0303 health sciences, education.field_of_study, Genome, Human, 030305 genetics & heredity, Genetic Variation, Genomics, medicine.disease, Germ Cells, Precision and recall
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المؤلفون: Leora Witkowski, Kim E. Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E. Plon, William D Foulkes
المصدر: Journal of Medical Genetics. :jmg-2022
مصطلحات موضوعية: Genetics, Genetics (clinical)
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9
المؤلفون: Yoland Antill, Paul A. James, Judy Kirk, Uwe Dressel, Nicola K. Poplawski, Lucinda Salmon, Nicholas Pachter, Aimee L Davidson, Sharron Townshend, Michael Gattas, Emma Tudini, Gillian Mitchell, Helen Mar Fan, Rachel Susman, Katherine M. Tucker, Robyn L. Ward, Michael Field, Ashley Crook, Alison H. Trainer, Amanda B. Spurdle, Lesley Andrews, Rebecca Harris
المصدر: Journal of Medical Genetics. 58:853-858
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic counseling, Genetic Counseling, Context (language use), Medical Oncology, 03 medical and health sciences, Strength of evidence, 0302 clinical medicine, Neoplasms, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Genetic testing, Family Health, Genetics & Heredity, medicine.diagnostic_test, business.industry, Tumor Suppressor Proteins, Australia, Cancer, Molecular Sequence Annotation, medicine.disease, Penetrance, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Family medicine, 06 Biological Sciences, 11 Medical and Health Sciences, Female, Hereditary Cancer, business
وصف الملف: Print-Electronic; application/pdf
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المؤلفون: A-M Patch, Andrea Garrett, Lambros T. Koufariotis, Asmerom T. Sengal, Leisl M. Packer, Priya Ramarao-Milne, Naven Chetty, Katia Nones, Felicity Newell, Deborah Smith, Vanessa Lakis, Aimee L Davidson, Robert J. Ju, Olga Kondrashova, James L. Nicklin, Rebecca Rogers, Vanessa F. Bonazzi, Pamela M. Pollock, Claire M. Davies, Lewis Perrin, John V. Pearson, Stephen H. Kazakoff, Nicola Waddell
مصطلحات موضوعية: Endometrial cancer, Cancer, Genomic signature, Biology, medicine.disease, Primary tumor, chemistry.chemical_compound, chemistry, In vivo, PARP inhibitor, Cancer research, medicine, Talazoparib, Exome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b57cb172bea0339f6a78562c3d0f253d
https://doi.org/10.1101/2021.03.30.436914