المؤلفون: Emma Bohn, Tammy T. Y. Lau, Omar Wagih, Tehmina Masud, Daniele Merico

المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)

مصطلحات موضوعية: deep learning, non-coding variation, rare disease, untranslated region (UTR), variant classification, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1257550/fullTest; https://doaj.org/toc/2296-889XTest

الوصول الحر: https://doaj.org/article/4467f0ae4f5a40f38d24c765e1f8d6d2Test

المؤلفون: Tehmina Masud, Charles Soong, Hong Xu, Justina Biele, Saelin Bjornson, Steven McKinney, Samuel Aparicio

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-20 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/0c06815b27ef4bb085b1d4ca77a4aceeTest

المؤلفون: Camila P E de Souza, Mirela Andronescu, Tehmina Masud, Farhia Kabeer, Justina Biele, Emma Laks, Daniel Lai, Patricia Ye, Jazmine Brimhall, Beixi Wang, Edmund Su, Tony Hui, Qi Cao, Marcus Wong, Michelle Moksa, Richard A Moore, Martin Hirst, Samuel Aparicio, Sohrab P Shah

المصدر: PLoS Computational Biology, Vol 16, Iss 9, p e1008270 (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1553-734XTest; https://doaj.org/toc/1553-7358Test

الوصول الحر: https://doaj.org/article/95e95387e9fb465bb06950a35a44a9d9Test

المؤلفون: Emma Bohn, Tammy T. Y. Lau, Omar Wagih, Tehmina Masud, Daniele Merico

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, deep learning, non-coding variation, rare disease, untranslated region (UTR), variant classification

العلاقة: https://figshare.com/articles/figure/Image4_A_curated_census_of_pathogenic_and_likely_pathogenic_UTR_variants_and_evaluation_of_deep_learning_models_for_variant_effect_prediction_TIFF/24107328Test

الإتاحة: https://doi.org/10.3389/fmolb.2023.1257550.s004Test
https://figshare.com/articles/figure/Image4_A_curated_census_of_pathogenic_and_likely_pathogenic_UTR_variants_and_evaluation_of_deep_learning_models_for_variant_effect_prediction_TIFF/24107328Test

المؤلفون: Emma Bohn, Tammy T. Y. Lau, Omar Wagih, Tehmina Masud, Daniele Merico

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, deep learning, non-coding variation, rare disease, untranslated region (UTR), variant classification

العلاقة: https://figshare.com/articles/dataset/Table5_A_curated_census_of_pathogenic_and_likely_pathogenic_UTR_variants_and_evaluation_of_deep_learning_models_for_variant_effect_prediction_xlsx/24107361Test

الإتاحة: https://doi.org/10.3389/fmolb.2023.1257550.s014Test
https://figshare.com/articles/dataset/Table5_A_curated_census_of_pathogenic_and_likely_pathogenic_UTR_variants_and_evaluation_of_deep_learning_models_for_variant_effect_prediction_xlsx/24107361Test

المؤلفون: Beatty S, Britta Weigelt, Havasov E, Douglas Jm, Beixi Wang, Samuel Aparicio, Steven McKinney, Samantha Leung, Hakwoo Lee, Brimhall J, Marc J Williams, Yang Li, Sohrab P. Shah, Justina Biele, Jamie L. P. Lim, Funnell T, Da Cruz Paula A, Ciara H. O'Flanagan, Andrew McPherson, Damian Yap, Nicholas Ceglia, Diljot Grewal, Weiner Ac, Sarah H. Kim, Allen Zhang, Ruiz de Algara T, Lee, Cerda Llanos, Liu Yf, Peter Eirew, Jorge S. Reis-Filho, Dmitriy Zamarin, Abrams D, Tehmina Masud, Daniel Lai, Bojilova, Richard A. Moore, Xu H, Farhia Kabeer, Nicole Rusk, Florian Uhlitz, Jerome Ting, Jenifer Pham

مصطلحات موضوعية: Structural variation, Evolutionary biology, medicine, Aneuploidy, Cancer, Biology, Ploidy, medicine.disease, Molecular clock, Phenotype, Genome, DNA sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cbca175098a6792741c75961dca47af5Test
https://doi.org/10.1101/2021.06.03.446999Test

المؤلفون: Tyler, Funnell, Ciara H, O'Flanagan, Marc J, Williams, Andrew, McPherson, Steven, McKinney, Farhia, Kabeer, Hakwoo, Lee, Sohrab, Salehi, Ignacio, Vázquez-García, Hongyu, Shi, Emily, Leventhal, Tehmina, Masud, Peter, Eirew, Damian, Yap, Allen W, Zhang, Jamie L P, Lim, Beixi, Wang, Jazmine, Brimhall, Justina, Biele, Jerome, Ting, Vinci, Au, Michael, Van Vliet, Yi Fei, Liu, Sean, Beatty, Daniel, Lai, Jenifer, Pham, Diljot, Grewal, Douglas, Abrams, Eliyahu, Havasov, Samantha, Leung, Viktoria, Bojilova, Richard A, Moore, Nicole, Rusk, Florian, Uhlitz, Nicholas, Ceglia, Adam C, Weiner, Elena, Zaikova, J Maxwell, Douglas, Dmitriy, Zamarin, Britta, Weigelt, Sarah H, Kim, Arnaud, Da Cruz Paula, Jorge S, Reis-Filho, Spencer D, Martin, Yangguang, Li, Hong, Xu, Teresa Ruiz, de Algara, So Ra, Lee, Viviana Cerda, Llanos, David G, Huntsman, Jessica N, McAlpine, Sohrab P, Shah, Pu, Zheng

المصدر: Nature. 612(7938)

مصطلحات موضوعية: Ovarian Neoplasms, Mutation, Humans, Female, Triple Negative Breast Neoplasms, Genomics, Phylogeny

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::baaf3b0746b71635075b84546a6965abTest
https://pubmed.ncbi.nlm.nih.gov/36289342Test

المؤلفون: Samuel Aparicio, Steven McKinney, Tehmina Masud, Saelin Bjornson, Charles Soong, Justina Biele, Hong Xu

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-20 (2021)

مصطلحات موضوعية: Cell biology, DNA repair, DNA damage, Science, Ubiquitin-Protein Ligases, Diseases, Synthetic lethality, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ubiquitin, Neoplasms, Humans, Benzothiazoles, Naphthyridines, 030304 developmental biology, Cancer, 0303 health sciences, Multidisciplinary, Histone ubiquitination, biology, Molecular medicine, Drug discovery, Helicase, HCT116 Cells, 3. Good health, Neoplasm Proteins, G-Quadruplexes, chemistry, Oncology, 030220 oncology & carcinogenesis, Ubiquitin-Conjugating Enzymes, biology.protein, Medicine, Homologous recombination, DNA, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f537c778c2c47c173ceeb721fee7b02Test
http://europepmc.org/articles/PMC8105411Test

المؤلفون: Allen W. Zhang, Justina Biele, Kieran R Campbell, Jerome Ting, Samuel Aparicio, Nicholas Ceglia, Diljot Grewal, Marc J Williams, Richard D. Moore, Takako Kono, Nicole Rusk, Jennifer Pham, Fatemeh Dorri, Sohrab P. Shah, Beixi Wang, Daniel Lai, Andrew J. Mungall, Peter Eirew, Hak Woo Lee, Mirela Andronescu, Andrew McPherson, Marco A. Marra, Alexandre Bouchard-Côté, Teresa Ruiz de Algara, Ciara H. O'Flanagan, Jazmine Brimhall, Farhia Kabeer, So Ra Lee, Sohrab Salehi, Tehmina Masud, Brian Yu Chieh Cheng

مصطلحات موضوعية: Transcriptome, Genetics, medicine.anatomical_structure, Phylogenetic tree, Fitness landscape, Fitness model, Cell, Genotype, medicine, Biology, Genome, Clonal selection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae1fdb04b617c65503083866007893e0Test

المؤلفون: Daniel Lai, Camila P. E. de Souza, Michelle Moksa, Edmund Su, Sohrab P. Shah, Tony Hui, Martin Hirst, Qi Cao, Beixi Wang, Patricia Ye, Samuel Aparicio, Emma Laks, Farhia Kabeer, Jazmine Brimhall, Mirela Andronescu, Tehmina Masud, Marcus Wong, Richard A. Moore, Justina Biele

المصدر: PLoS Computational Biology
PLoS Computational Biology, Vol 16, Iss 9, p e1008270 (2020)

مصطلحات موضوعية: 0301 basic medicine, Computer science, Probabilistic clustering, Biochemistry, Genome, Mathematical and Statistical Techniques, 0302 clinical medicine, Breast Tumors, Basic Cancer Research, Medicine and Health Sciences, Cluster Analysis, Biology (General), computer.programming_language, DNA methylation, Sex Chromosomes, Ecology, Chemical Reactions, X Chromosomes, Genomics, Methylation, Chromatin, Nucleic acids, Chemistry, Oncology, Computational Theory and Mathematics, CpG site, Modeling and Simulation, Physical Sciences, Epigenetics, Single-Cell Analysis, DNA modification, Chromatin modification, Research Article, Chromosome biology, Cell biology, QH301-705.5, Computational biology, Research and Analysis Methods, Chromosomes, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cancer Genomics, Genomic Medicine, Breast Cancer, Genetics, Humans, Molecular Biology Techniques, Hierarchical Clustering, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Probability, Biology and life sciences, Cancers and Neoplasms, Sequence Analysis, DNA, DNA, Python (programming language), Missing data, Mixture model, Hierarchical clustering, 030104 developmental biology, CpG Islands, Gene expression, computer, 030217 neurology & neurosurgery, Cloning

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::702d2ed01e80a85e516760b256db21beTest
https://doi.org/10.1101/414482Test