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1دورية أكاديمية
المؤلفون: Jeroen van den Akker, Gilad Mishne, Anjali D. Zimmer, Alicia Y. Zhou
المصدر: BMC Genomics, Vol 19, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: Next generation sequencing, Variant calling, Variant quality, Variant confidence, Secondary confirmation, Orthogonal confirmation, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jeroen van den Akker, Ed VanBavel, Remon van Geel, Hanke L Matlung, Bilge Guvenc Tuna, George M C Janssen, Peter A van Veelen, Wilbert C Boelens, Jo G R De Mey, Erik N T P Bakker
المصدر: PLoS ONE, Vol 6, Iss 8, p e23067 (2011)
وصف الملف: electronic resource
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المؤلفون: Gilad Mishne, Serra Kim, Scott Topper, Robert O'Connor, Carmen Lai, Jeroen van den Akker, Raymond C. Chan, Anjali D. Zimmer, Alicia Y. Zhou
المصدر: Human Mutation
مصطلحات موضوعية: Population, Mutation, Missense, Genomics, Biology, Machine learning, computer.software_genre, Logistic regression, genetic testing, Machine Learning, Special Article, 03 medical and health sciences, Neoplasms, Genetics, Feature (machine learning), medicine, Humans, Generalizability theory, variant classification, education, Genetics (clinical), 030304 developmental biology, Genetic testing, 0303 health sciences, education.field_of_study, Models, Statistical, Models, Genetic, Receiver operating characteristic, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Random forest, Logistic Models, ROC Curve, Cardiovascular Diseases, Area Under Curve, Artificial intelligence, business, computer, clinical genetics
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المؤلفون: Jeremy Ginsberg, Ziga Mahkovec, Anjana Ondov, Lawrence Hon, Justin Lock, Anjali D. Zimmer, Asha Rostamianfar, Scott Topper, Raymond C. Chan, Robert O'Connor, Jeroen van den Akker, Annette Leon
المصدر: The Journal of molecular diagnostics : JMD. 23(5)
مصطلحات موضوعية: 0301 basic medicine, Population, Computational biology, Biology, Germline, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Chromosomes, Human, Humans, Disease, Copy-number variation, education, Gene, Germ-Line Mutation, education.field_of_study, Genome, Human, Breakpoint, High-Throughput Nucleotide Sequencing, Hereditary disorders, Chromosome Breakage, Introns, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, Hereditary Cancer, Algorithms
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المؤلفون: Anil K. Rustgi, Annette Leon, Jeroen van den Akker, Robert O'Connor, Payal D. Shah, Danielle McKenna, Lauren Ryan, Bryson W. Katona, Alicia Y. Zhou
المصدر: Familial Cancer. 18:63-66
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Colon, Colorectal cancer, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Gene Duplication, Gene duplication, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Family history, Genetics (clinical), business.industry, Cancer, Colonoscopy, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Human genetics, Lynch syndrome, Pedigree, Colon polyps, Adenomatous Polyposis Coli, Oncology, 030220 oncology & carcinogenesis, Intercellular Signaling Peptides and Proteins, Female, Tandem exon duplication, business
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المؤلفون: Alicia Y. Zhou, Eitan Friedman, Yael Laitman, Jamal Zidan, Jeroen van den Akker, Hagit Schayek, Julia Schnaider
المصدر: Breast Cancer Research and Treatment. 166:881-885
مصطلحات موضوعية: Adult, 0301 basic medicine, Cancer Research, PALB2, Population, Breast Neoplasms, Genomics, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, medicine, Humans, Genetic Predisposition to Disease, Israel, education, Gene, Germ-Line Mutation, BRCA2 Protein, Ovarian Neoplasms, Genetics, education.field_of_study, BRCA1 Protein, business.industry, BRIP1, Cancer, Middle Aged, medicine.disease, Arabs, 030104 developmental biology, Oncology, Jews, 030220 oncology & carcinogenesis, Female, Ovarian cancer, business
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المؤلفون: Alicia Y. Zhou, Gilad Mishne, Jeroen van den Akker, Anjali D. Zimmer
المصدر: BMC Genomics
BMC Genomics, Vol 19, Iss 1, Pp 1-9 (2018)مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, lcsh:QH426-470, lcsh:Biotechnology, Low Confidence, Variant confidence, Biology, Machine learning, computer.software_genre, DNA sequencing, Variant quality, Machine Learning, Set (abstract data type), 03 medical and health sciences, symbols.namesake, Secondary confirmation, 0302 clinical medicine, Targeted ngs, lcsh:TP248.13-248.65, Next generation sequencing, Variant calling, Genetics, False positive paradox, Orthogonal confirmation, Models, Statistical, Base Sequence, business.industry, Methodology Article, Genetic Variation, High-Throughput Nucleotide Sequencing, Confidence interval, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, Artificial intelligence, business, computer, Biotechnology, Reference genome
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المؤلفون: Martine Piccart-Gebhart, Lisette Stork-Sloots, Patrizia Dell'Orto, Giuseppe Viale, Femke A. de Snoo, Jan Bogaerts, Fatima Cardoso, Laura J van 't Veer, Jeroen van den Akker, Leila Russo, Emiel J. Th. Rutgers, Leen Slaets
المصدر: Cancer Research. 75:P4-11
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Concordance, Cancer, medicine.disease, Breast cancer, MammaPrint, Trastuzumab, Internal medicine, medicine, Biomarker (medicine), Immunohistochemistry, business, Pathological, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4a0907eb5d62c2ad933f9120de04bd26
https://doi.org/10.1158/1538-7445.sabcs14-p4-11-08 -
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المؤلفون: Laura van 't Veer, Lauren Ryan, Taylor Sittler, Ofri Leitner, Sophie B. Adams, Beth Crawford, Salina Chan, Jeroen van den Akker, Elad Gil
المصدر: Breast cancer research and treatment, vol 163, iss 2
Breast Cancer Research and Treatmentمصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, endocrine system diseases, DNA Mutational Analysis, medicine.disease_cause, Panel testing, 0302 clinical medicine, Breast cancer, Risk Factors, Epidemiology of cancer, 80 and over, Young adult, skin and connective tissue diseases, Second-degree relative, Aged, 80 and over, Ovarian Neoplasms, Mutation, medicine.diagnostic_test, BRCA1 Protein, Brief Report, Middle Aged, 030220 oncology & carcinogenesis, Female, Adult, medicine.medical_specialty, Ubiquitin-Protein Ligases, Clinical Sciences, Oncology and Carcinogenesis, Mutation, Missense, Breast Neoplasms, and over, 03 medical and health sciences, Young Adult, Ovarian cancer, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Oncology & Carcinogenesis, Genetic testing, Aged, BRCA2 Protein, business.industry, Tumor Suppressor Proteins, Cancer, medicine.disease, BRCA1, BRCA2, Hereditary cancer, Checkpoint Kinase 2, 030104 developmental biology, Missense, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::738ff5fb7ed050249334f6fb66882aa8
https://escholarship.org/uc/item/04j9x65s -
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المؤلفون: Jeroen van den Akker, Carlie J.M. de Vries, Erik N. T. P. Bakker, Hanke L. Matlung, Ed VanBavel
المساهمون: Other departments, Amsterdam Cardiovascular Sciences, Biomedical Engineering and Physics, Medical Biochemistry
المصدر: Atherosclerosis, 213(1), 77-84. Elsevier Ireland Ltd
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Tissue transglutaminase, Apolipoprotein E3, HL-60 Cells, Femoral artery, Gene Expression Regulation, Enzymologic, Lesion, Mice, medicine.artery, medicine, Cell Adhesion, Animals, Humans, Cell adhesion, Transglutaminases, biology, Factor XIII, Vascular disease, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Macrophages, medicine.disease, Atherosclerosis, Femoral Artery, Mice, Inbred C57BL, biology.protein, Immunohistochemistry, medicine.symptom, Cardiology and Cardiovascular Medicine, business, medicine.drug, Calcification