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1دورية أكاديمية
المؤلفون: Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich
المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-17 (2019)
مصطلحات موضوعية: Next generation sequencing analysis, Clinical variant interpretation and classification, Exome sequencing, Whole genome sequencing, Non-coding variants, Biomedical knowledgebase, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2دورية أكاديمية
المؤلفون: Lauren M. Chunn, Diane C. Nefcy, Rachel W. Scouten, Ryan P. Tarpey, Gurinder Chauhan, Megan S. Lim, Kojo S. J. Elenitoba-Johnson, Steven A. Schwartz, Mark J. Kiel
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: genome sequence analysis, copy number variant, rare disease, oncology, gene fusions, variant interpretation and classification, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2020.577152/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00798/fullTest; https://doaj.org/toc/1664-8021Test
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المؤلفون: Megan S. Lim, Steven A. Schwartz, Mark J. Kiel, Diane C. Nefcy, Lauren Chunn, Kojo S.J. Elenitoba-Johnson, Rachel W. Scouten, Ryan P. Tarpey, Gurinder Chauhan
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, genome sequence analysis, Genetic variants, rare disease, Computational biology, Biology, gene fusions, DNA sequencing, lcsh:Genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, variant interpretation and classification, 030220 oncology & carcinogenesis, oncology, Methods, Genetics, Molecular Medicine, Genome sequence analysis, copy number variant, Hereditary Cancer, Copy-number variation, Association (psychology), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8677ac4943546952b1653a52114b25e8Test
https://doi.org/10.3389/fgene.2020.577152Test -
5دورية أكاديمية
المؤلفون: Thompson, B.A., Walters, R., Parsons, M.T., Dumenil, T., Drost, M., Tiersma, Y., Lindor, N.M., Tavtigian, S.V., Wind, N. de, Spurdle, A.B., InSiGHT Variant Interpretation Com
المصدر: Frontiers in Genetics
مصطلحات موضوعية: mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing
وصف الملف: application/pdf
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2020.00798/fullTest; lumc-id: 111717370; https://hdl.handle.net/1887/3184392Test
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المؤلفون: Doron Lancet, Dvir Dahary, Tsippi Iny Stein, Ofer Zelig, Ruth Barshir, Marilyn Safran, Yaron Mazor, Fei Chen, Guy Rosner, Yiping Shen, Michal Twik, Yaron Golan, Revital Kariv, Simon Fishilevich, Qiang Zhang
المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-17 (2019)
BMC Medical Genomicsمصطلحات موضوعية: Exome sequencing, 0301 basic medicine, lcsh:Internal medicine, medicine.medical_specialty, Genotype, lcsh:QH426-470, Computer science, Biomedical knowledgebase, Computational biology, Genome, Workflow, GeneCards, User-Computer Interface, 03 medical and health sciences, Annotation, 0302 clinical medicine, Gene Frequency, Next generation sequencing analysis, Databases, Genetic, Genetics, medicine, Humans, Clinical variant interpretation and classification, Non-coding variants, lcsh:RC31-1245, Exome, Genetics (clinical), Genetic Variation, Molecular Sequence Annotation, Genomics, Rare genetic diseases, Human genetics, lcsh:Genetics, Phenotype, 030104 developmental biology, Whole genome sequencing, Medical genetics, Hamartomatous polyposis, Software, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465a605231ba7ce7f91df4b8ac72da09Test
https://doi.org/10.1186/s12920-019-0647-8Test -
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المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing
الإتاحة: https://doi.org/10.3389/fgene.2020.00798.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Contribution_of_mRNA_Splicing_to_Mismatch_Repair_Gene_Sequence_Variant_Interpretation_xlsx/12722282Test -
8صورة
المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing
الإتاحة: https://doi.org/10.3389/fgene.2020.00798.s002Test
https://figshare.com/articles/figure/Image_1_Contribution_of_mRNA_Splicing_to_Mismatch_Repair_Gene_Sequence_Variant_Interpretation_pdf/12722285Test