Nucleic Acids Research · 2018 · 336 citations · 28 references
NeurogenomicsGeneticsGenomicsBioinformatics DatabaseGene SymbolsMolecular EcologyComputational GenomicsGenome AnalysisVgnc ResourcesBioinformaticsFunctional GenomicsBiologyGene Sequence AnnotationNatural SciencesEvolutionary BiologyComputational BiologyEuropean Bioinformatics InstituteReference GenomeMedicineGene Group
The HUGO Gene Nomenclature Committee (HGNC) based at EMBL's European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. There are over 40 000 approved gene symbols in our current database of which over 19 000 are for protein-coding genes. The Vertebrate Gene Nomenclature Committee (VGNC) was established in 2016 to assign standardized nomenclature in line with human for vertebrate species that lack their own nomenclature committees. The VGNC initially assigned nomenclature for over 15000 protein-coding genes in chimpanzee. We have extended this process to other vertebrate species, naming over 14000 protein-coding genes in cow and dog and over 13 000 in horse to date. Our HGNC website https://www.genenames.org has undergone a major design update, simplifying the homepage to provide easy access to our search tools and making the site more mobile friendly. Our gene families pages are now known as 'gene groups' and have increased in number to over 1200, with nearly half of all named genes currently assigned to at least one gene group. This article provides an overview of our online data and resources, focusing on our work over the last two years.
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UniProt: the Universal Protein knowledgebase
Rolf Apweiler · Nucleic Acids Research · 2003 · 7.8K citations · Full text
UniProt: the universal protein knowledgebase
Nucleic Acids Research · 2016 · 4.5K citations · Full text
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa Landrum, Jennifer M. Lee, George Riley et al. · Nucleic Acids Research · 2013 · 3.5K citations · Full text