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massive parallel sequencing (164) 164
science & technology (137) 137
life sciences & biomedicine (122) 122
humans (71) 71
genetics & heredity (46) 46
high-throughput nucleotide sequencing (35) 35
mutation (33) 33
female (32) 32
analysis (29) 29
male (29) 29
genetic aspects (23) 23
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genomics (22) 22
next generation sequencing (21) 21
sequence analysis, dna (19) 19
pathology (18) 18
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genomes (17) 17
deoxyribonucleic acid--dna (16) 16
genes (16) 16
high-throughput nucleotide sequencing - methods (16) 16
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methods (16) 16
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next-generation sequencing (14) 14
oncology (14) 14
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polymerase chain reaction (12) 12
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dna sequencing (11) 11
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cancer (9) 9
computational biology - methods (9) 9
gene sequencing (9) 9
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gene expression (8) 8
genetic predisposition to disease (8) 8
mutation - genetics (8) 8
nucleotide sequencing (8) 8
single nucleotide polymorphisms (8) 8
technology (8) 8
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aged (7) 7
alleles (7) 7
base sequence (7) 7
gene mutations (7) 7
genetics, population (7) 7
lung cancer (7) 7
massive parallel signature sequencing (7) 7
microbiology (7) 7
pregnancy (7) 7
proteins (7) 7
rna (7) 7
algorithms (6) 6
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chromatin (6) 6
dna methylation (6) 6
dna mutational analysis (6) 6
fluorescence in situ hybridization (6) 6
forensic science (6) 6
genetic markers (6) 6
genetic testing (6) 6
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hematology (6) 6
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massive data (6) 6
massive sequencing (6) 6
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1. Full Text Sensitive and specific detection of EML4 - ALK rearrangements in non-small cell lung cancer (NSCLC) specimens by multiplex amplicon RNA massive parallel sequencing
by Moskalev, Evgeny A and Frohnauer, Judith and Merkelbach-Bruse, Sabine and Schildhaus, Hans-Ulrich and Dimmler, Arno and Schubert, Thomas and Boltze, Carsten and König, Helmut and Fuchs, Florian and Sirbu, Horia and Rieker, Ralf J and Agaimy, Abbas and Hartmann, Arndt and Haller, Florian
Lung cancer (Amsterdam, Netherlands), ISSN 0169-5002, 2014, Volume 84, Issue 3, pp. 215 - 221
Hematology, Oncology and Palliative Medicine | Pulmonary/Respiratory | EML4-ALK | 454 massive parallel sequencing | Molecular diagnostic | NSCLC | ALK rearrangement | Respiratory System | Oncology | Life Sciences & Biomedicine | Science & Technology | Tumors of the respiratory system and mediastinum | Biological and medical sciences | Multiple tumors. Solid tumors. Tumors in childhood (general aspects) | Medical sciences | Tumors | Pneumology | Lung Neoplasms - genetics | Multiplex Polymerase Chain Reaction - methods | Carcinoma, Non-Small-Cell Lung - genetics | Humans | Middle Aged | Male | Oncogene Proteins, Fusion - analysis | Sequence Analysis, RNA - methods | Oncogene Proteins, Fusion - genetics | Sensitivity and Specificity | Aged, 80 and over | Adult | Female | Aged | High-Throughput Nucleotide Sequencing - methods | Cytogenetics | Lymphomas | RNA | Lung cancer, Non-small cell | Index Medicus
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2. Full Text Massive parallel sequencing of dried umbilical cord remnants
by Sennaiyan, Usha Nandhini and Phani, Nagaraj M and Deepak, Vuppu and Appaswamy, Giridharan and Krishna, Mani Ram
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2020, Volume 182, Issue 11, pp. 2778 - 2780
massive parallel sequencing | postmortem genetic testing | monogenic disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pregnancy | Prenatal diagnosis | Umbilical cord | Etiology | Genetic screening
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3. Full Text Sudden unexpected death in the young — Value of massive parallel sequencing in postmortem genetic analyses
by Scheiper, Stefanie and Ramos-Luis, Eva and Blanco-Verea, Alejandro and Niess, Constanze and Beckmann, Britt-Maria and Schmidt, Ulrike and Kettner, Mattias and Geisen, Christof and Verhoff, Marcel A and Brion, Maria and Kauferstein, Silke
Forensic science international, ISSN 0379-0738, 12/2018, Volume 293, pp. 70 - 76
Genetics | Massive parallel sequencing | Sudden cardiac death | Arrhythmia syndromes | Sudden death | Life Sciences & Biomedicine | Medicine, Legal | Legal Medicine | Science & Technology | Cardiac Myosins - genetics | Humans | Connectin - genetics | Myosin Heavy Chains - genetics | Infant | Male | Death, Sudden, Cardiac - etiology | Sequence Analysis, DNA | Genetic Variation | Young Adult | Cardiomyopathies - genetics | Channelopathies - genetics | Calcium Channels, L-Type - genetics | Dystrophin - genetics | Hypertrophy, Left Ventricular - pathology | Ankyrins - genetics | Forensic Genetics | Adult | Female | High-Throughput Nucleotide Sequencing | alpha Catenin - genetics | Microfilament Proteins - genetics | Arrhythmia | Demographic aspects | Cardiac arrest | Causes of | Youth | Genetic aspects | Teenagers | Health aspects | Death of | Heart | Cardiac arrhythmia | Cardiomyopathy | Epilepsy | Genes | Cardiovascular disease | Family medical history | Genetic screening | Gene sequencing | Analgesics | Autopsy | Genetic analysis | Deoxyribonucleic acid--DNA | Genetic disorders | Forensic science | Legal medicine | Mortality | Preventive medicine | Disease prevention | Studies | Pathology | Sleep | Genetic counseling | Death | Index Medicus
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4. Full Text Entire mitochondrial DNA sequencing on massively parallel sequencing for the Korean population
by Park, Sohyung and Cho, Sohee and Seo, Hee Jin and Lee, Ji Hyun and Kim, Moon-Young and Lee, Soong Deok
Journal of Korean medical science, ISSN 1011-8934, 2017, Volume 32, Issue 4, pp. 587 - 592
Korean | Mitochondrial DNA | Massive parallel sequencing | MtDNA haplogroup | Ion torrent PGM | Heteroplasmy | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genetic Variation | Haplotypes | DNA, Mitochondrial - metabolism | Humans | Asian Continental Ancestry Group - genetics | High-Throughput Nucleotide Sequencing | Open Reading Frames - genetics | Sequence Analysis, DNA | DNA, Mitochondrial - chemistry | Republic of Korea | Index Medicus | Ion Torrent PGM | Massive Parallel Sequencing | mtDNA Haplogroup | Original | 의학일반
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5. Full Text Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys‐Dietz syndromes
by Baetens, Machteld and Van Laer, Lut and De Leeneer, Kim and Hellemans, Jan and De Schrijver, Joachim and Van De Voorde, Hendrik and Renard, Marjolijn and Dietz, Hal and Lacro, Ronald V and Menten, Björn and Van Criekinge, Wim and De Backer, Julie and De Paepe, Anne and Loeys, Bart and Coucke, Paul J
Human mutation, ISSN 1059-7794, 09/2011, Volume 32, Issue 9, pp. 1053 - 1062
multiplex PCR | massive parallel sequencing | Marfan | Loeys‐Dietz | TGFBR1 | FBN1 | TGFBR2 | Multiplex PCR | Massive parallel sequencing | Loeys-Dietz | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Molecular Diagnostic Techniques - methods | Reproducibility of Results | Humans | Loeys-Dietz Syndrome - diagnosis | Mutation - genetics | Marfan Syndrome - genetics | Polymorphism, Genetic | Pilot Projects | DNA Mutational Analysis | Base Sequence | Marfan Syndrome - diagnosis | Polymerase Chain Reaction | DNA Primers - metabolism | Loeys-Dietz Syndrome - genetics | High-Throughput Nucleotide Sequencing - methods | Polymerase chain reaction | Missense mutation | DNA probes | Exons | Data processing | genomics | Transforming growth factor- beta | Fibrillin | Index Medicus
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6. Full Text Chronological age prediction based on DNA methylation: Massive parallel sequencing and random forest regression
by Naue, Jana and Hoefsloot, Huub C.J and Mook, Olaf R.F and Rijlaarsdam-Hoekstra, Laura and van der Zwalm, Marloes C.H and Henneman, Peter and Kloosterman, Ate D and Verschure, Pernette J
Forensic science international : genetics, ISSN 1872-4973, 11/2017, Volume 31, pp. 19 - 28
DNA methylation | Massive parallel sequencing | Age prediction | Machine learning | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Legal | Legal Medicine | Science & Technology | Humans | Middle Aged | Genetic Markers | Machine Learning | Sequence Analysis, DNA | Young Adult | DNA Methylation | Algorithms | Aging - genetics | Adolescent | Polymerase Chain Reaction | CpG Islands - genetics | Adult | Aged | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Epigenetic inheritance | Usage | Forensic genetics | Genetic research | Genetic aspects | Research | Methylation | Age | Genetic screening | Methods | Index Medicus
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7. Full Text Statistical method to compare massive parallel sequencing pipelines
by Elsensohn, M.H and Leblay, N and Dimassi, S and Campan-Fournier, A and Labalme, A and Roucher-Boulez, F and Sanlaville, D and Lesca, G and Bardel, C and Roy, P
BMC bioinformatics, ISSN 1471-2105, 03/2017, Volume 18, Issue 1, pp. 139 - 139
Pipeline comparison | Sensitivity | Specificity | Statistical methods | Massive parallel sequencing | Next-generation sequencing | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Biochemical Research Methods | Science & Technology | Mathematical & Computational Biology | Computational Biology - methods | Humans | Epilepsy - genetics | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Models, Statistical | Epilepsy - pathology | Sequence Analysis, DNA | INDEL Mutation | Index Medicus | Life Sciences
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8. Full Text Massive parallel sequencing of solid tumours – challenges and opportunities for pathologists
by Harris, Gavin and O'Toole, Sandra and George, Peter and Browett, Peter and Print, Cristin
Histopathology, ISSN 0309-0167, 01/2017, Volume 70, Issue 1, pp. 123 - 133
histopathology | massive parallel sequencing | genomics | next‐generation sequencing | bioinformatics | next-generation sequencing | Pathology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Neoplasms - genetics | Humans | Pathologists | Pathology - methods | High-Throughput Nucleotide Sequencing - methods | High-Throughput Nucleotide Sequencing - trends | Pathology - trends | Genomics | Tumors | Morphology | Mutation | Index Medicus
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9. Full Text Proof of concept study of age-dependent DNA methylation markers across different tissues by massive parallel sequencing
by Naue, Jana and Sänger, Timo and Hoefsloot, Huub C.J and Lutz-Bonengel, Sabine and Kloosterman, Ate D and Verschure, Pernette J
Forensic science international : genetics, ISSN 1872-4973, 09/2018, Volume 36, pp. 152 - 159
DNA methylation | Massive parallel sequencing | Forensic epigenetics | Age determination | Humans | Middle Aged | Child, Preschool | CpG Islands/genetics | Infant | Male | Young Adult | DNA Methylation | Muscle, Skeletal/chemistry | Mouth Mucosa/chemistry | Polymerase Chain Reaction | Aged, 80 and over | Adult | Female | Child | Infant, Newborn | Aging/genetics | Linear Models | Genetic Markers | Saliva/chemistry | Sequence Analysis, DNA | Proof of Concept Study | Pilot Projects | Adolescent | Aged | Brain Chemistry | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Bone and Bones/chemistry | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Legal | Legal Medicine | Science & Technology | Saliva - chemistry | Mouth Mucosa - chemistry | Aging - genetics | Muscle, Skeletal - chemistry | Bone and Bones - chemistry | CpG Islands - genetics | Forensic genetics | Nucleotide sequencing | Methods | DNA sequencing | Index Medicus
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10. Full Text Mutational analysis of pulmonary tumours with neuroendocrine features using targeted massive parallel sequencing: A comparison of a neglected tumour group
by Vollbrecht, Claudia and Werner, Robert and Walter, Robert Fred Henry and Christoph, Daniel Christian and Heukamp, Lukas Carl and Peifer, Martin and Hirsch, Burkhard and Burbat, Lina and Mairinger, Thomas and Schmid, Kurt Werner and Wohlschlaeger, Jeremias and Mairinger, Fabian Dominik
British journal of cancer, ISSN 0007-0920, 12/2015, Volume 113, Issue 12, pp. 1704 - 1711
lung cancer | targeted sequencing | massive parallel sequencing | SCLC | Carcinoids | NGS | Life Sciences & Biomedicine | Oncology | Science & Technology | Lung Neoplasms - genetics | Neuroendocrine Tumors - pathology | Humans | Middle Aged | Lung Neoplasms - pathology | Male | Neuroendocrine Tumors - genetics | Paraffin Embedding | Young Adult | Aged, 80 and over | Adult | Female | Aged | Mutation | Index Medicus | Molecular Diagnostics | carcinoids
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