Embedded Files
Human Genome Organization (HUGO) Gene Nomenclature
Human Genome Organization (HUGO) Gene Nomenclature
"The HGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, ncRNA genes and pseudogenes, to allow unambiguous scientific communication."
"The HGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, ncRNA genes and pseudogenes, to allow unambiguous scientific communication."
HuGE (Human Genome Epidemiology) Navigator
HuGE (Human Genome Epidemiology) Navigator
"HuGE Navigator provides access to a continuously updated knowledge base in human genome epidemiology, including information on population prevalence of genetic variants, gene-disease associations, gene-gene and gene- environment interactions, and evaluation of genetic tests."
"HuGE Navigator provides access to a continuously updated knowledge base in human genome epidemiology, including information on population prevalence of genetic variants, gene-disease associations, gene-gene and gene- environment interactions, and evaluation of genetic tests."
gnomAD
gnomAD
"The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community."
"The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community."
NHGRI-EBI GWAS Catalog
NHGRI-EBI GWAS Catalog
"The NHGRI-EBI GWAS Catalog is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industry. "
"The NHGRI-EBI GWAS Catalog is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industry. "
Kaviar
Kaviar
"Kaviar (~Known VARiants) is a compilation of SNVs, indels, and complex variants observed in humans, designed to facilitate testing for the novelty and frequency of observed variants."
"Kaviar (~Known VARiants) is a compilation of SNVs, indels, and complex variants observed in humans, designed to facilitate testing for the novelty and frequency of observed variants."
Geno2MP
Geno2MP
"Geno2MP (https://geno2mp.gs.washington.edu/) (Figure 2) is a web-accessible, searchable database containing rare variant genotypes linked to phenotypic information developed by the University of Washington Center for Mendelian Genomics to publicly share all rare (<2.5% alternate allele frequency in gnomAD v2.1 or v3.0) sequence variants identified in individuals affected by suspected Mendelian conditions and/or in their putatively unaffected relatives alongside deidentified phenotype data describing the affected status and original phenotype of interest for which each family was ascertained." Link
"Geno2MP (https://geno2mp.gs.washington.edu/) (Figure 2) is a web-accessible, searchable database containing rare variant genotypes linked to phenotypic information developed by the University of Washington Center for Mendelian Genomics to publicly share all rare (<2.5% alternate allele frequency in gnomAD v2.1 or v3.0) sequence variants identified in individuals affected by suspected Mendelian conditions and/or in their putatively unaffected relatives alongside deidentified phenotype data describing the affected status and original phenotype of interest for which each family was ascertained." Link
Link: geno2mp.gs.washington.edu/Geno2MP
Link: geno2mp.gs.washington.edu/Geno2MP
GeneCards
GeneCards
"GeneCards is a searchable, integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes. The knowledgebase automatically integrates gene-centric data from ~150 web sources, including genomic, transcriptomic, proteomic, genetic, clinical and functional information."
"GeneCards is a searchable, integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes. The knowledgebase automatically integrates gene-centric data from ~150 web sources, including genomic, transcriptomic, proteomic, genetic, clinical and functional information."
LOVD
LOVD
"The Leiden Open source Variation Database (LOVD), a freely available Web-based software for the collection, display, and curation of DNA variants in locus-specific databases (LSDBs) was developed following the LSDB-in-a-box concept"
"The Leiden Open source Variation Database (LOVD), a freely available Web-based software for the collection, display, and curation of DNA variants in locus-specific databases (LSDBs) was developed following the LSDB-in-a-box concept"
Page updated
Google Sites
Report abuse