Table 4.
CONSTITUENCY | |||||
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Resource Type | Patients and Family Members | Clinicians | Geneticists and Genetic Counselors | Diagnostic Laboratory Scientists | Genomics Researchers |
Clinical reference resources | Genetics Home Reference (GHR) ghr.nlm.nih.gov | MedGen https://www.ncbi.nlm.nih.gov/medgen/ Genetic Testing Registry (GTR) https://www.ncbi.nlm.nih.gov/gtr/ Clinical Pharmacogenetics Implementation Consortium https://cpicpgx.org/ |
Online Mendelian Inheritance in Man (OMIM) www.ncbi.nlm.nih.gov/omim | ClinGen https://www.clinicalgenome.org/ ClinVar ht/www.ncbi.nlm.nih.gov/clinvar/ |
GeneCards (http://www.genecards.org) PharmGKB https://www.pharmgkb.org/ The Cancer Genome Atlas (TCGA) https://cancergenome.nih.gov/ |
Educational resources | NHGRI Talking Glossary https://www.genome.gov/glossary/ Your Genome www.yourgenome.org Genetic Alliance http://www.geneticalliance.org/ |
Genetics/Genomics Competency Center https://genomicseducation.net/ GeneReviews http://www.genereviews.org |
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Data resources | GenomeConnect https://www.genomeconnect.org/
MyGene2 (https://mygene2.org/MyGene2/ |
Matchmaker Exchange https://www.matchmakerexchange.org/ | gnomAD http://gnomad.broadinstitute.org/ | Gene-Tissue Expression Project (GTEx) http://www.gtexportal.org/home Alliance of Genome Resources https://www.alliancegenome.org/ Monarch Initiative https://monarchinitiative.org/ |