Articles

UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (186) 186
life sciences & biomedicine (180) 180
humans (159) 159
genetics & heredity (119) 119
genomics (72) 72
female (44) 44
male (40) 40
mutation (40) 40
genetic variation (39) 39
genetic testing (38) 38
genomes (35) 35
databases, genetic (34) 34
genetics (33) 33
research (31) 31
adult (30) 30
genome, human (29) 29
genome, human - genetics (28) 28
genes (27) 27
child (25) 25
genetic testing - methods (23) 23
united states (23) 23
genetic variation - genetics (22) 22
biological and medical sciences (21) 21
phenotype (21) 21
variant interpretation (20) 20
adolescent (19) 19
clingen (19) 19
genetic aspects (19) 19
genetic predisposition to disease (19) 19
hearing loss (19) 19
medical sciences (19) 19
software (19) 19
medical genetics (18) 18
nucleotide sequencing (18) 18
abridged index medicus (17) 17
child, preschool (17) 17
dna sequencing (17) 17
genetic research (17) 17
genomics - methods (17) 17
laboratories (17) 17
middle aged (17) 17
alleles (16) 16
analysis (16) 16
clinvar (16) 16
exome (15) 15
genetic screening (15) 15
genetic testing - standards (15) 15
hearing loss - genetics (15) 15
deafness (14) 14
genotype (14) 14
infant (14) 14
methods (14) 14
sequence analysis, dna (14) 14
sequence analysis, dna - methods (14) 14
connexins - genetics (13) 13
infant, newborn (13) 13
patients (13) 13
usage (13) 13
young adult (13) 13
aged (12) 12
hearing loss, sensorineural - genetics (12) 12
amp (11) 11
connexin 26 (11) 11
diagnosis (11) 11
high-throughput nucleotide sequencing (11) 11
incidental findings (11) 11
pathology (11) 11
data sharing (10) 10
genetic disorders (10) 10
health aspects (10) 10
hearing impairment (10) 10
medicine (10) 10
pathogenicity (10) 10
pedigree (10) 10
whole genome sequencing (10) 10
cardiomyopathy (9) 9
classification (9) 9
computational biology (9) 9
dna mutational analysis (9) 9
exome sequencing (9) 9
general & internal medicine (9) 9
genetic predisposition to disease - genetics (9) 9
high-throughput nucleotide sequencing - methods (9) 9
medical research (9) 9
medicine, general & internal (9) 9
otorhinolaryngology. stomatology (9) 9
phenotypes (9) 9
precision medicine (9) 9
reproducibility of results (9) 9
aged, 80 and over (8) 8
cardiomyopathy, hypertrophic - genetics (8) 8
cohort studies (8) 8
deafness - genetics (8) 8
deoxyribonucleic acid--dna (8) 8
ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology (8) 8
gene sequencing (8) 8
genetic counseling (8) 8
information sharing (8) 8
mutation - genetics (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Disease-targeted sequencing: A cornerstone in the clinic
by Rehm, Heidi L
Nature reviews. Genetics, ISSN 1471-0056, 04/2013, Volume 14, Issue 4, pp. 295 - 300
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease - genetics | Molecular Diagnostic Techniques - methods | Reproducibility of Results | Humans | Genetic Association Studies - methods | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Translational Medical Research - methods | Genome, Human - genetics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Evolving health care through personal genomics
by Rehm, Heidi L
Nature reviews. Genetics, ISSN 1471-0056, 04/2017, Volume 18, Issue 4, pp. 259 - 267
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Delivery of Health Care - standards | Humans | Adult | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Genetic Testing - methods | Precision Medicine | Care and treatment | Innovations | Medical care | Genotype | Forecasts and trends | Patients | Testing | Quality management | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Building the foundation for genomics in precision medicine
by Aronson, Samuel J and Rehm, Heidi L
Nature (London), ISSN 0028-0836, 10/2015, Volume 526, Issue 7573, pp. 336 - 342
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Attitude of Health Personnel | Clinical Laboratory Services | Physicians | Humans | Genetics, Medical - trends | Patients | Research Personnel | Genomics - organization & administration | Genetics, Medical - organization & administration | Precision Medicine - trends | Electronic Health Records | Genomics - trends | Precision Medicine - methods | Genetic research | Methods | Health care | Researchers | Precision medicine | Genomics | Collaboration | Genomes | Research | Electronic health records | Open data | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text A new era in the interpretation of human genomic variation
by Rehm, Heidi L
Genetics in medicine, ISSN 1098-3600, 10/2017, Volume 19, Issue 10, pp. 1092 - 1095
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Genome, Human | Genomics | Humans | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs
by Rehm, Heidi L
Genetics in medicine, ISSN 1098-3600, 03/2018, Volume 20, Issue 3, pp. 378 - 379
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
by Richards, Sue and Aziz, Nazneen and Bale, Sherri and Bick, David and Das, Soma and Gastier-Foster, Julie and Grody, Wayne W and Hegde, Madhuri and Lyon, Elaine and Spector, Elaine and Voelkerding, Karl and Rehm, Heidi L and ACMG Lab Quality Assurance Comm and ACMG Laboratory Quality Assurance Committee and on behalf of the ACMG Laboratory Quality Assurance Committee
Genetics in medicine, ISSN 1098-3600, 05/2015, Volume 17, Issue 5, pp. 405 - 424
variant reporting | sequence variant terminology | ACMG laboratory guideline | interpretation | clinical genetic testing | reporting | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Genetic Testing - standards | Gene Frequency | Humans | Sequence Analysis, DNA - standards | Mutation | Odds Ratio | Case-Control Studies | Index Medicus | sequence variation | variant terminology
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. New approaches to molecular diagnosis
by Korf, Bruce R and Rehm, Heidi L
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 04/2013, Volume 309, Issue 14, pp. 1511 - 1521
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Molecular Diagnostic Techniques - ethics | Humans | Male | Genetic Testing - ethics | Genetic Counseling | Usher Syndromes - genetics | Child Development Disorders, Pervasive - diagnosis | Adult | Female | Genetic Testing - trends | Child | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Molecular Diagnostic Techniques - trends | Lung Neoplasms - genetics | Pharmacogenetics | Risk Assessment | Genetic Testing - legislation & jurisprudence | Computational Biology | Usher Syndromes - diagnosis | Child Development Disorders, Pervasive - genetics | Genome, Human | Lung Neoplasms - diagnosis | Genomics - trends | Sequence Analysis, DNA - methods | Genetic disorders | Genetic testing | Medical diagnosis | Physicians | Genomics
Journal Article
Details down arrow
8. Full Text Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar
by Harrison, Steven M and Rehm, Heidi L
Genome medicine, ISSN 1756-994X, 11/2019, Volume 11, Issue 1, pp. 72 - 72
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Association Studies - methods | Genetic Predisposition to Disease | Genetic Testing - methods | Humans | Practice Guidelines as Topic | Medical genetics | Pathogenicity | Laboratories | Reclassification | Genomics | Classification | Cancer | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Genetic Misdiagnoses and the Potential for Health Disparities
by Manrai, Arjun K and Funke, Birgit H and Rehm, Heidi L and Olesen, Morten S and Maron, Bradley A and Szolovits, Peter and Margulies, David M and Loscalzo, Joseph and Kohane, Isaac S
The New England journal of medicine, ISSN 0028-4793, 08/2016, Volume 375, Issue 7, pp. 655 - 665
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Cardiomyopathy, Hypertrophic - genetics | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Hispanic Americans - genetics | Genetic Testing | Health Status Disparities | United States | Humans | Middle Aged | African Americans - genetics | Genotype | False Positive Reactions | Sequence Analysis, DNA | Exome | Genetic Variation | Young Adult | Asian Americans - genetics | Adolescent | Adult | Aged | Mutation | Child | Usage | Care and treatment | Cardiomyopathy, Hypertrophic | Analysis | Genomes | Health care disparities | Research | Genetic screening | Cardiomyopathy | Benign | Population studies | Genetic testing | Medical diagnosis | Health risk assessment | Health disparities | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Lack of diversity in genomic databases is a barrier to translating precision medicine research into practice
by Landry, Latrice G and Ali, Nadya and Williams, David R and Rehm, Heidi L and Bonham, Vence L
Health Affairs, ISSN 0278-2715, 2018, Volume 37, Issue 5, pp. 780 - 785
Health Care Sciences & Services | Health Policy & Services | Life Sciences & Biomedicine | Science & Technology | Genome-Wide Association Study | United States | Genomics | Humans | Translational Medical Research | Male | Neoplasms - drug therapy | Genetic Variation | Ethnic Groups - genetics | Neoplasms - genetics | Female | Neoplasms - pathology | Databases, Factual | Needs Assessment | Precision Medicine | Populations | Racial differences | Clinical trials | Risk | Population studies | Genomes | Breast cancer | Research | Minority & ethnic groups | Patients | Molecular chains | Medicine | Studies | Ethnicity | Databases | Genetic counseling | Precision medicine | Race | Genetic research | Biomarkers | Genetics | Clinical medicine | Genotypes | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text ClinGen — The Clinical Genome Resource
by Rehm, Heidi L and Berg, Jonathan S and Brooks, Lisa D and Bustamante, Carlos D and Evans, James P and Landrum, Melissa J and Ledbetter, David H and Maglott, Donna R and Martin, Christa Lese and Nussbaum, Robert L and Plon, Sharon E and Ramos, Erin M and Sherry, Stephen T and Watson, Michael S and ClinGen
The New England journal of medicine, ISSN 0028-4793, 06/2015, Volume 372, Issue 23, pp. 2235 - 2242
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genetic Variation | Genetic Predisposition to Disease - genetics | National Library of Medicine (U.S.) | Genetic Testing | United States | Humans | Genetic Diseases, Inborn - genetics | Databases, Genetic | Genome, Human | Care and treatment | Usage | Genetic disorders | Medical care | Clinical trials | Genomes | Research | Management | Genetic variance | Genetics | Disease | Pathogenesis | Genomics | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights