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JAMA pediatrics, ISSN 2168-6203, 10/2017, Volume 171, Issue 12, pp. e173438 - 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 | Index Medicus | Abridged 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
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The New England journal of medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Phenotype | Humans | Genetic Diseases, Inborn - genetics | Mutation | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing | Genetic counseling | Laboratories | Patients | Genomics | Index Medicus | Abridged Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 10/2015, Volume 17, Issue 10, pp. 774 - 781
genic intolerance | diagnosis | HNRNPU | rare disease | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Genetic Association Studies | Humans | Genetic Diseases, Inborn - genetics | Genotype | Male | Exome | Phenotype | Female | High-Throughput Nucleotide Sequencing | Mutation | Genomics - methods | Genetic Diseases, Inborn - diagnosis | Index Medicus | Original
Journal Article
Cell (Cambridge), ISSN 0092-8674, 02/2020, Volume 180, Issue 3, pp. 568 - 584.e23
exome sequencing | genetics | neurodevelopment | cytoskeleton | liability | excitatory-inhibitory balance | excitatory neurons | cell type | autism spectrum disorder | inhibitory neurons | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Autistic Disorder - genetics | Genetic Predisposition to Disease | Gene Frequency | Humans | Male | Mutation, Missense | Whole Exome Sequencing - methods | Case-Control Studies | Neurobiology - methods | Exome | Cell Lineage | Phenotype | Gene Expression Regulation, Developmental | Single-Cell Analysis - methods | Sex Factors | Cerebral Cortex - growth & development | Female | Neurons - metabolism | Cohort Studies | Index Medicus
Journal Article
Journal of human genetics, ISSN 1434-5161, 01/2014, Volume 59, Issue 1, pp. 5 - 15
medical genomics | common disease | Mendelian disorder | whole-exome sequencing | Cancer | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetic Predisposition to Disease | Genetics, Medical - methods | Humans | Genetics, Medical - trends | High-Throughput Nucleotide Sequencing | Genetic Testing - trends | Research | Genomics - methods | Genetic Testing - methods | Genomics - trends | Index Medicus
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An Evaluation of Copy Number Variation Detection Tools from Whole‐Exome Sequencing Data
Human mutation, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 899 - 907
evaluation studies | whole‐genome sequencing | copy number variation | whole‐exome sequencing | Copy number variation | Evaluation studies | Whole-genome sequencing | Whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Computational Biology - methods | Datasets as Topic | Humans | DNA Copy Number Variations | Exome | Algorithms | Sensitivity and Specificity | Heterozygote | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Software | Genomics - methods | Genetic research | Genomes | Nucleotide sequencing | Genomics | DNA sequencing | Mutation | Index Medicus
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