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1دورية أكاديمية
المصدر: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: NGS Analysis, Variant classification, Variant annotation, Copy number variation, Microsatellite instability, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2105Test
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2دورية أكاديمية
المؤلفون: Roy Khalife, Tara M. Love, Lara Sucheston-Campbell, Michael J. Clark, Helle Sorensen, Shuba Krishna, Anthony Magliocco
المصدر: Journal of Molecular Pathology, Vol 5, Iss 1, Pp 81-95 (2024)
مصطلحات موضوعية: next generation sequencing (NGS), genomic analysis, variant annotation, bioinformatics, tier classification, tertiary analysis software, Pathology, RB1-214
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Dong Wang, Jie Li, Edwin Wang, Yadong Wang
المصدر: BMC Bioinformatics, Vol 25, Iss S1, Pp 1-16 (2024)
مصطلحات موضوعية: Missense variants, Functional impact, Variant annotation, Disease-related, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2105Test
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4دورية أكاديمية
المؤلفون: Sami Bizzari, Pratibha Nair, Sayeeda Hana, Asha Deepthi, Mahmoud Taleb Al-Ali, Lihadh Al-Gazali, Stephany El-Hayek
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: variant, Emirati, database, variant annotation, rare disease, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1177204/fullTest; https://doaj.org/toc/1664-8021Test
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5دورية أكاديمية
المؤلفون: Miran Kim, Su Wang, Xiaoqian Jiang, Arif Harmanci
المصدر: BMC Bioinformatics, Vol 23, Iss 1, Pp 1-39 (2022)
مصطلحات موضوعية: Variant annotation, Genomic privacy, Allele frequency, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2105Test
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6دورية أكاديمية
المؤلفون: Marie A. Brunet, Sébastien Leblanc, Xavier Roucou
المصدر: Cell & Bioscience, Vol 12, Iss 1, Pp 1-7 (2022)
مصطلحات موضوعية: Small ORF, Alternative ORF, Variant annotation, NGS, Genome, SNP, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-3701Test
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7دورية أكاديمية
المؤلفون: Ashraf Bourawy, Abdalmunam Abdalla
المصدر: Alq J Med App Sci 6(2) 424-432
مصطلحات موضوعية: Germline, Variant discovery, GATK, Variant Annotation
العلاقة: https://zenodo.org/record/8219249Test; https://doi.org/10.5281/zenodo.8219249Test; oai:zenodo.org:8219249
الإتاحة: https://doi.org/10.5281/zenodo.8219249Test
https://doi.org/10.5281/zenodo.8219248Test
https://zenodo.org/record/8219249Test -
8دورية أكاديمية
المؤلفون: Chang Li, Kevin Ma, Nicole Xu, Chenjian Fu, Andrew He, Xiaoming Liu, Yongsheng Bai
المصدر: Frontiers in Artificial Intelligence, Vol 5 (2022)
مصطلحات موضوعية: Next-Generation Sequencing, SNP, python, mutation, variant annotation, pipeline, Electronic computers. Computer science, QA75.5-76.95
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/frai.2022.991733/fullTest; https://doaj.org/toc/2624-8212Test
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9دورية أكاديمية
المؤلفون: Buckley, Alexandra R, Standish, Kristopher A, Bhutani, Kunal, Ideker, Trey, Lasken, Roger S, Carter, Hannah, Harismendy, Olivier, Schork, Nicholas J
المصدر: BMC Genomics. 18(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Human Genome, Rare Diseases, Cancer, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Artifacts, Databases, Genetic, Genome, Human, Genomics, Germ-Line Mutation, Humans, Loss of Function Mutation, Neoplasms, Cancer genomics, TCGA, Cancer germline, Whole exome sequencing, Variant calling, GATK, Batch effects, Whole genome amplification, Variant annotation, Genetic association testing, Information and Computing Sciences, Medical and Health Sciences, Bioinformatics, Biological sciences, Biomedical and clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8636s47pTest
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10دورية أكاديمية
المؤلفون: Qingmei Han, Ying Yang, Shengyang Wu, Yingchun Liao, Shuang Zhang, Hongbin Liang, David S. Cram, Yu Zhang
المصدر: BMC Genomics, Vol 22, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Cruxome, Next Generation Sequencing, Mendelian disorders, Variant annotation, Variant interpretation, Whole Exome Sequencing, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2164Test