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Genetics in medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 435 - 443
diagnostics | copy number variation | next-generation sequencing | noncoding | whole-genome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Association Studies - standards | Whole Exome Sequencing - standards | Computational Biology - methods | Genetic Predisposition to Disease | Genetic Testing - standards | Humans | Molecular Sequence Annotation | Genetic Diseases, Inborn - genetics | Genetic Association Studies - methods | Sequence Analysis, DNA - standards | Male | Whole Genome Sequencing - standards | Whole Genome Sequencing - methods | Genetic Testing - methods | Whole Exome Sequencing - methods | DNA Copy Number Variations | Exome | Genetic Variation | Phenotype | Female | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Pediatrics | Genes | Genomes | Index Medicus | Original
Journal Article
JAMA pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, p. e173438
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Critical Care - methods | Infant Care - methods | Humans | Genetic Diseases, Inborn - genetics | Genetic Counseling - methods | Infant | Intensive Care Units, Pediatric | Genetic Diseases, Inborn - therapy | Whole Exome Sequencing - methods | Exome | Texas | Adult | Disease Management | Retrospective Studies | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Length of Stay - statistics & numerical data
Journal Article
Cancer science, ISSN 1347-9032, 02/2017, Volume 108, Issue 2, pp. 170 - 177
neoantigen | whole‐exome sequencing | RNA‐Seq | Lung cancer | next‐generation sequencing | next-generation sequencing | RNA-Seq | whole-exome sequencing | Life Sciences & Biomedicine | Oncology | Science & Technology | Adenocarcinoma | Lung Neoplasms - genetics | Microarray Analysis - methods | T-Lymphocytes, Cytotoxic - immunology | Antigens, Neoplasm - genetics | Gene Expression | Carcinoma, Non-Small-Cell Lung - genetics | Humans | RNA, Messenger - genetics | Male | Histocompatibility Antigens Class I - genetics | Mutation, Missense | Carcinoma, Non-Small-Cell Lung - immunology | Exome | Sequence Analysis, RNA - methods | Lung Neoplasms - immunology | Algorithms | Adult | Aged | Antigens, Neoplasm - analysis | High-Throughput Nucleotide Sequencing - methods | DNA, Complementary | RNA sequencing | Messenger RNA | Lung cancer, Non-small cell | Gene expression | Tumor antigens | Analysis | Candidates | Transcription | Peptides | Nucleotide sequence | Genomes | Biological assays | Patients | Studies | Missense mutation | Major histocompatibility complex | Gene frequency | Information processing | Software | Mutation | Deoxyribonucleic acid--DNA | Cancer | Tumors | Index Medicus | Original
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 957 - 969
Allergy and Immunology | targeted sequencing | primary immunodeficiency | Next-generation sequencing | whole-exome sequencing | whole-genome sequencing | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Exome - genetics | Humans | Immunologic Deficiency Syndromes - genetics | Genetic Diseases, Inborn | High-Throughput Nucleotide Sequencing | Genome, Human - genetics | Genetic research | Genomes | Nucleotide sequencing | Genomics | DNA sequencing | Genetic polymorphisms | Studies | Hypotheses | Parents & parenting | Disease | Genes | Quality | Editing | Fibroblasts | Mutation | Index Medicus | Abridged Index Medicus | Targeted sequencing | Whole exome sequencing | Whole genome sequencing | Next generation sequencing | Primary immunodeficiency
Journal Article
Journal of clinical epidemiology, ISSN 0895-4356, 12/2017, Volume 92, pp. 7 - 10
Genetic counseling | Genetic testing | Whole genome sequencing | Mendelian disease | Exome sequencing | Incidental findings | Health Care Sciences & Services | Public, Environmental & Occupational Health | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Genomics | Humans | Incidental Findings | Male | Genetic Counseling | Genetic Testing - methods | Whole Exome Sequencing | Exome - genetics | Sensitivity and Specificity | Mendelian Randomization Analysis | Female | Genome-Wide Association Study - methods | Genetic Diseases, Inborn - diagnosis | Medical research | Medical genetics | Medicine, Experimental | Genomes | Nucleotide sequencing | DNA sequencing | Medical imaging | Genetic disorders | Disease | Patients | Genetic screening | Gene sequencing | Validity | Genetics | Mutation | Boards of directors | Index Medicus
Journal Article
The Lancet (British edition), ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fetus - abnormalities | Congenital Abnormalities - epidemiology | Fetus - diagnostic imaging | Prospective Studies | Humans | Parents | Perinatal Death - etiology | Male | DNA Copy Number Variations - genetics | Whole Exome Sequencing - methods | Abnormal Karyotype - embryology | Congenital Abnormalities - diagnosis | Pregnancy | Abortion, Spontaneous - epidemiology | Congenital Abnormalities - genetics | Nuchal Translucency Measurement | Stillbirth - epidemiology | Abnormal Karyotype - statistics & numerical data | Female | Live Birth - epidemiology | Fetal Development - genetics | Abortion, Eugenic - statistics & numerical data | Infant, Newborn | Whole Exome Sequencing - statistics & numerical data | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies | Index Medicus | Abridged Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 5, pp. 884 - 886
phenotype | dysmorphology | Mendelian | whole‐genome sequencing | NGS | whole‐exome sequencing | monogenic | Wholegenome sequencing | Phenotype | Dysmorphology | Whole-exome sequencing | Monogenic | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | Molecular Diagnostic Techniques | Genetics, Medical | Humans | Translational Medical Research | High-Throughput Nucleotide Sequencing | Index Medicus | whole genome sequencing | whole exome sequencing
Journal Article
Clinical genetics, ISSN 0009-9163, 08/2019, Volume 96, Issue 2, pp. 140 - 150
copy number variation sequencing | targeted next‐generation sequencing panels | whole‐exome sequencing | diagnostic yield | neurological disorders | targeted next-generation sequencing panels | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Nervous system diseases | Diagnosis | Seizures (Medicine) | Children | Health aspects | Neurological diseases | Pediatrics | Copy number | Sodium channels (voltage-gated) | Patients | Neurological disorders | Seizures | Index Medicus
Journal Article