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1College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
المؤلفون: Jane Gibson, Linda A. Palicki, Karen E. Weck, Jason D. Merker, Denise K. Driscoll, Karl V. Voelkerding, Nazneen Aziz, Rakesh Nagarajan, Wayne W. Grody, Lynn Bry, Birgit Funke, Madhuri Hegde, Gerald A. Hoeltge, Debra G.B. Leonard, Iris Schrijver, Ryan S. Robetorye, Qin Zhao
المصدر: Archives of Pathology & Laboratory Medicine. 139:481-493
مصطلحات موضوعية: Clinical tests, medicine.medical_specialty, Guidelines as Topic, Bioinformatics, DNA sequencing, Pathology and Forensic Medicine, symbols.namesake, Humans, Genomic medicine, Medicine, Medical physics, Genetic Testing, Reference standards, Societies, Medical, Sanger sequencing, Protein function, Pathology, Clinical, Clinical Laboratory Techniques, business.industry, Computational Biology, High-Throughput Nucleotide Sequencing, Reproducibility of Results, General Medicine, Reference Standards, United States, Clinical method, Medical Laboratory Technology, symbols, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f22e379bdb1c3281d73deeb2a265edefTest
https://doi.org/10.5858/arpa.2014-0250-cpTest -
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المؤلفون: Anna Rychkova, Carlos Bustamante, Carlos Milla, Curt Scharfe, Justin I. Odegaard, Iris Schrijver, Martina I. Lefterova, MyMy C. Buu
مصطلحات موضوعية: 0303 health sciences, Stability (learning theory), Contrast (statistics), Computational biology, Biology, computer.software_genre, Genome, DNA sequencing, 3. Good health, Random forest, 03 medical and health sciences, 0302 clinical medicine, Feature (machine learning), Data mining, Set (psychology), Allele frequency, computer, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::448abbd9ef0a9a87299de10b9558a2b6Test
https://doi.org/10.1101/115956Test -
3
المؤلفون: Petros Papadopoulos, Swee Lay Thein, Kenneth R. Peterson, Iris Schrijver, Kamran Moradkhani, Sonja Pavlovic, Barnaby Clark, James D. Hoyer, Raymond E. Tully, Philippe Joly, Alain Francina, D J Anstee, Lucia Perseu, Ross C. Hardison, Emmanuel Kanavakis, Halyna Fedosyuk, Stephan Menzel, Douglas R. Higgs, Maja Stojiljkovic, Henri Wajcman, Belinda Giardine, Stefania Satta, Belinda K. Singleton, Marianthi Georgitsi, John S. Waye, Webb Miller, George P. Patrinos, Branka Zukic, Sjaak Philipsen, Milena Radmilovic, J. Traeger-Synodinos, Flávia C. Costa, Donna Maglott, David H.K. Chui, Monica V.E. Gallivan, Panagoula Kollia, Martin Jarvis, A. Nazli Basak, Cornelis L. Harteveld, Adamantia Papachatzopoulou, Richard J. Gibbons, Joseph Borg, John Old, Manoussos N. Papadakis, Claudia Wiemann, Renzo Galanello, Piero C. Giordano, Paula Faustino, Cathy Riemer, Alex E. Felice, Takahito Wada
المصدر: Nature Genetics; Vol 43
Nature Genetics, 43(4), 295-302مصطلحات موضوعية: thalassemia, Molecular Sequence Data, Human genetic variation, Computational biology, Biology, Genome, Article, Hemoglobins, 03 medical and health sciences, 0302 clinical medicine, Documentation, Databases, Genetic, Human Genome Project, Genetic variation, Genetics, medicine, locus-specific databases, Data Mining, Humans, microattribution, Genetic variability, Promoter Regions, Genetic, hemoglobinopathies, 030304 developmental biology, Publishing, 0303 health sciences, Base Sequence, Genome, Human, Genetic Variation, DNA, medicine.disease, Doenças Genéticas, Hemoglobinopathies, Hemoglobinopathy, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), Human genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bfcfaf3e53d2a8fdedc13f58bb18b86Test
https://doi.org/10.1038/ng.785Test -
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المؤلفون: Karen E. Weck, Iris Schrijver
المصدر: Genetics in Medicine. 18:1188-1189
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, ROC Curve, business.industry, Molecular genetic testing, Humans, Medicine, Genetic Testing, Computational biology, 030105 genetics & heredity, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6228c5d520481e8b094b5cfa5c2912Test
https://doi.org/10.1038/gim.2016.116Test -
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المؤلفون: Curtis J. Palm, Wenyi Wang, Curt Scharfe, Ronald W. Davis, Lynn Pique, Thomas Klopstock, Terence P. Speed, Rita Horvath, Iris Schrijver, Michael N. Mindrinos, David J. Cutler, Peidong Shen, Sreedevi Thiyagarajan, Shengrong Lin
المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Nucleic Acids Research
مصطلحات موضوعية: Quality Control, False discovery rate, Mitochondrial DNA, Mitochondrial Diseases, Sequence analysis, Mitochondrial disease, Molecular Sequence Data, Biology, Polymorphism, Single Nucleotide, Genome, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, MUTYH, Genetics, medicine, Humans, Oligonucleotide Array Sequence Analysis, 030304 developmental biology, 0303 health sciences, Base Sequence, Computational Biology, Genetic Variation, Sequence Analysis, DNA, medicine.disease, 3. Good health, Data Interpretation, Statistical, DNA mismatch repair, False positive rate, Algorithms, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e402cc4ce2b74862c9395b06c3f42c9Test
https://doi.org/10.1093/nar/gkq750Test -
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المؤلفون: Matthew W. Anderson, Iris Schrijver
المصدر: Genes, Vol 1, Iss 1, Pp 38-69 (2010)
Genesمصطلحات موضوعية: next generation sequencing, Genetics, lcsh:QH426-470, Sequence analysis, business.industry, Review, DNA, sequencing, bioinformatics, Computational biology, Biology, Molecular diagnostics, DNA sequencing, molecular diagnostics, lcsh:Genetics, Workflow, Genomic medicine, Personalized medicine, Analysis tools, business, Genetics (clinical), Sequence (medicine)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51809969da0e0430756606f8f0e01993Test
https://doi.org/10.3390/genes1010038Test -
7كتاب إلكتروني
المؤلفون: George Jabboure Netto, Iris Schrijver
نوع المادة: eBook.
الموضوعات: Biology, Diseases, Bioinformatics, Genomics, Biochemistry, Life sciences, Medical genetics, Physical sciences, Computational biology, Pathology, Molecular, Methodology
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المؤلفون: Iris Schrijver, Kevin C. Halling, Diane L. Persons
المصدر: Archives of Pathology & Laboratory Medicine. 136:11-13
مصطلحات موضوعية: Medical Laboratory Technology, Pathology, medicine.medical_specialty, business.industry, medicine, Diagnostic test, General Medicine, Computational biology, business, Pathology and Forensic Medicine, Verification and validation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7d82a6eb12836c5dc24545e766249aa3Test
https://doi.org/10.5858/arpa.2011-0212-edTest -
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المؤلفون: Iris, Schrijver, Nazneen, Aziz, Daniel H, Farkas, Manohar, Furtado, Andrea Ferreira, Gonzalez, Timothy C, Greiner, Wayne W, Grody, Tina, Hambuch, Lisa, Kalman, Jeffrey A, Kant, Roger D, Klein, Debra G B, Leonard, Ira M, Lubin, Rong, Mao, Narasimhan, Nagan, Victoria M, Pratt, Mark E, Sobel, Karl V, Voelkerding, Jane S, Gibson
المصدر: The Journal of molecular diagnostics : JMD. 14(6)
مصطلحات موضوعية: Patents as Topic, Genome, Human, Neoplasms, Computational Biology, High-Throughput Nucleotide Sequencing, Humans, Genomics, Pathology, Molecular, Validation Studies as Topic, Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d759d5d1dc965d23abf43814d9f5bde9Test
https://pubmed.ncbi.nlm.nih.gov/22918138Test -
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المؤلفون: Juan Rodriguez-Paris, Nancy Gelvez, Iris Schrijver, Marta L. Tamayo
المصدر: PLoS ONE, Vol 6, Iss 6, p e21665 (2011)
PLoS ONEمصطلحات موضوعية: Gene Identification and Analysis, Connexin, Gene Expression, lcsh:Medicine, Otology, medicine.disease_cause, Compound heterozygosity, Connexins, Loss of heterozygosity, Pathology, lcsh:Science, Hearing Disorders, Sequence Deletion, Genetics, Mutation, Multidisciplinary, biology, Reverse Transcriptase Polymerase Chain Reaction, Connexin 26, Medicine, Sensorineural hearing loss, medicine.symptom, GJB6, Polymorphism, Restriction Fragment Length, Research Article, Clinical Pathology, Hearing loss, Hearing Loss, Sensorineural, DNA transcription, Molecular Genetics, Genetic Mutation, Diagnostic Medicine, medicine, Connexin 30, otorhinolaryngologic diseases, Humans, Genetic Testing, Allele, Biology, Alleles, Clinical Genetics, lcsh:R, Mutation Types, Computational Biology, Human Genetics, medicine.disease, Molecular biology, Otorhinolaryngology, biology.protein, lcsh:Q, Gene Function
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d114c9cea243338ecac9873c9f60e58Test
http://europepmc.org/articles/PMC3126855?pdf=renderTest