Resource | Illustration | Features | Universal Resource Locator (URL) |
---|---|---|---|
1000 Genomes Project | Individuals from several populations were sequenced with lower coverage, but phenotypic information was lacking. | Most variants can be found by gene or browser searches and are more prevalent in populations. | www.1000genomes.org |
Entrez Gene | Summary from NCBI for each gene | Examples and resources for pathogenic alleles are provided by links to CliniVar and dbVar. | www.ncbi.nlm.nih.gov/gene |
DECIPHER | Database of structural variations from willing subjects displaying developmental characteristics | Gene or region searches are also available, as well as phenotype-linked tracks within the UCSC genome browser. | www.decipher.sanger.ac.uk |
Human Gene Mutation Database (HGMD) | It gathers information on known, published human mutations that cause diseases | It requires non-profit organization registration. It gives information and references on alleles known to cause disease |
www.hgmd.cf.ac.uk |
Genotype and phenotypic database | Data with restricted access that includes deidentified subjects’ genotypes and phenotypes from many research | Requires the NIH Data Access Committee to allow access before reviewing sequencing data | www.ncbi.nlm.nih.gov/gap |
ClinVar | Researcher-submitted, diagnostic-lab-submitted, and other sources submitted genetic variation and associated phenotypes archive | A gene’s variation can be filtered depending on the type of variation, the molecular impact, and the number of researchers that have submitted their findings to uncover a deleterious mutation in the gene of interest. | www.ncbi.nlm.nih.gov/clinvar |