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. Author manuscript; available in PMC: 2020 Aug 10.
Published in final edited form as: Lancet. 2019 Aug 5;394(10197):511–520. doi: 10.1016/S0140-6736(19)31140-7

Table 4.

Examples of genomic resources by constituency.

CONSTITUENCY

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

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/