Table 1 Public databases that assist explorations of human homologs of Drosophila genes
ResourceURLDescriptionFeatures
HUGO Gene Nomenclature Committee (HGNC)http://www.genenames.orgCentral database for gene nomenclature in the human genome.Provides gene symbol and gene name for human loci links to other resources. Also provides HCOP, a tool to identify potential orthologs of human genes in other species.
Entrez Genehttp://www.ncbi.nlm.nih.gov/geneNCBI summary for each gene.Links to CliniVar and dbVar provide examples and references for pathogenic alleles.
ClinVarhttp://www.ncbi.nlm.nih.gov/clinvarArchive of genetic variation and related phenotypes submitted from researchers, diagnostic labs, other sources (SNPs in ClinVar are accessioned in dbSNP and structural variants accessioned in dbVar).Variation in a gene can be filtered based on variation type, molecular consequence, number of researchers submitting to find pathogenic mutation in gene of interest.
Human Gene Mutation Database (HGMD)http://www.hgmd.cf.ac.ukCompiles known published disease-causing human mutations.Requires registration from a nonprofit organization. Provides references and data on known disease-causing alleles.
Human Genome Variation Society (HGVS) Databaseshttp://www.hgvs.org/dblist/dblist.htmlProvides links to a number of resources, such as curated locus specific or disease-specific mutation sites.Links to a number of specialized databases are provided.
Database of Genomic Variants (DGV)http://dgv.tcag.caDocuments structural variation (gains or losses over 50 bp) in healthy control individuals.Allows freely available searches based on human gene name or chromosomal region, entire database can be downloaded as tab delimited file.
1000 Genomes projecthttp://www.1000genomes.orgLower coverage sequencing data from individuals from several populations, no phenotypic data.Most variants are more common variants in populations, searchable by gene or browser.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server (EVS)http://evs.gs.washington.eduSearchable exome sequencing dataset from thousands of individuals phenotyped in distinct cardiovascular and lung cohorts.Searches by gene, chromosomal region, or SNP id, provides allele frequencies in European and African Americans.
DECIPHERhttps://decipher.sanger.ac.ukStructural variation database from consented individuals exhibiting developmental phenotypes.Searchable by gene or region, also as a track within the UCSC genome browser linked to phenotype.
Database of genotypes and phenotypes (dbGAP)http://www.ncbi.nlm.nih.gov/gapControlled access data providing genotypes and phenotypes on deidentified subjects from multiple studies.Requires access to be granted by NIH Data Access Committee to examine sequencing data.
Catalog of published genome-wide association studieshttp://www.genome.gov/gwastudies/A curated database of GWAS studies meeting quality criteria and their SNP associations.Search or download the entire catalog, includes wide range of complex traits, provides strongest risk allele for locus of interest.