Table 5.

Examples of Publicly Available Genetics Resources and Databases

Resource or DatabaseDescription
Portal for data sharing to speed the identification of clinically relevant variants
Database of interpretation about genotype-phenotype relationship of human variation in disease
NCBI public archive of genetic variation across various species
NCBI database of genomic structural variation
Exome variant server
Database of exome sequencing data from individuals sequenced through the NHLBI GO Exome Sequencing Project (ESP)
ExAC browser
Database of exome sequencing data from unrelated individuals from a variety of large-scale sequencing projects
Expert-authored, peer-reviewed disease descriptions focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions
Human Gene Mutation Database
Database of variant annotations in disease published in the literature; requires subscription
Human Genome Variation Society
Database with variant annotations on specific subsets of human variation in disease
Database of human genes and genetic conditions in disease
Database of dysmorphology, including multiple malformations, metabolic, teratogenic, chromosomal and skeletal syndromes and their images; requires subscription
Database of medically relevant gene reference sequence
1000 Genomes
Database of genomic variants derived from next-generation sequencing of healthy control subjects
  • dbSNP indicates Database of Single Nucleotide Polymorphisms; dbVAR, Database of Genomic Structural Variation; ExAC, Exome Aggregation Consortium; NCBI, National Center for Biotechnology Information; NHLBI, National Heart, Lung, and Blood Institute; OMIM, Online Mendelian Inheritance in Man; POSSUM, Pictures of Standard Syndromes and Undiagnosed Malformations.