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1دورية أكاديمية
المؤلفون: Shazia Mahamdallie, Elise Ruark, Esty Holt, Emma Poyastro-Pearson, Anthony Renwick, Ann Strydom, Sheila Seal, Nazneen Rahman
المصدر: Wellcome Open Research, Vol 3 (2018)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Shazia Mahamdallie, Elise Ruark, Shawn Yost, Márton Münz, Anthony Renwick, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Nazneen Rahman
المصدر: Wellcome Open Research, Vol 3 (2018)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Márton Münz, Shazia Mahamdallie, Shawn Yost, Andrew Rimmer, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Elise Ruark, Nazneen Rahman
المصدر: Wellcome Open Research, Vol 3 (2018)
وصف الملف: electronic resource
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المؤلفون: Mark James, Wilsher, Sara, Shubbar, Hood, Mugalaasi, Emma, Poyastro-Pearson, Lina, Chen Yuan, Mikel Valganon, Petrizan, Suzanne, MacMahon
المصدر: Pathology. 54:941-945
مصطلحات موضوعية: Sweat Gland Neoplasms, Nipples, Neoplasms, Syringoma, Humans, Genomics, Pathology and Forensic Medicine
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المؤلفون: Shazia, Mahamdallie, Shawn, Yost, Emma, Poyastro-Pearson, Esty, Holt, Anna, Zachariou, Sheila, Seal, Anna, Elliott, Matthew, Clarke, Margaret, Warren-Perry, Sandra, Hanks, John, Anderson, Simon, Bomken, Trevor, Cole, Roula, Farah, Rhoikos, Furtwaengler, Adam, Glaser, Richard, Grundy, James, Hayden, Steve, Lowis, Frédéric, Millot, James, Nicholson, Milind, Ronghe, Jane, Skeen, Denise, Williams, Daniel, Yeomanson, Elise, Ruark, Nazneen, Rahman
مصطلحات موضوعية: Adult, Genetic Markers, Male, Jumonji Domain-Containing Histone Demethylases, F-Box-WD Repeat-Containing Protein 7, Genes, Wilms Tumor, Adolescent, Middle Aged, Tripartite Motif-Containing Protein 28, Prognosis, Wilms Tumor, United Kingdom, Article, Kidney Neoplasms, Young Adult, Child, Preschool, Mutation, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Exome, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cdb18334ee19befe259ca75a00843b82
https://europepmc.org/articles/PMC6472290/ -
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المؤلفون: Elise Ruark, Emma Poyastro-Pearson, Esty Holt, Ann Strydom, Shazia Mahamdallie, Nazneen Rahman, Sheila Seal, Anthony Renwick
المصدر: Wellcome Open Research
مصطلحات موضوعية: FASTQ format, Computer science, In silico, Medicine (miscellaneous), Computational biology, Data Note, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, genetic testing, 03 medical and health sciences, 0302 clinical medicine, cancer predisposition gene, medicine, Copy-number variation, Indel, variant benchmarking, BRCA1 and BRCA2, 030304 developmental biology, Genetic testing, next generation sequencing, validation, 0303 health sciences, medicine.diagnostic_test, Articles, Accession number (bioinformatics), 3. Good health, analytical sensitivity, CpG site, 030217 neurology & neurosurgery
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المؤلفون: Nazneen Rahman, Elise Ruark, Márton Münz, Shazia Mahamdallie, Sheila Seal, Shawn Yost, Emma Poyastro-Pearson, Andrew Rimmer, Ann Strydom
المصدر: Wellcome Open Research
مصطلحات موضوعية: 0301 basic medicine, media_common.quotation_subject, Medicine (miscellaneous), quality assurance, computer.software_genre, depth of coverage, General Biochemistry, Genetics and Molecular Biology, mapping quality, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Open research, Documentation, base quality, Quality (business), quality control, media_common, Graphical user interface, Quality Sequencing Minimimum, Database, business.industry, Software Tool Article, Flagging, QSM, Articles, Pipeline (software), 030104 developmental biology, 030220 oncology & carcinogenesis, NGS, Metric (unit), business, computer, Quality assurance