7.3 years ago by
Washington University School of Medicine, St. Louis, USA
Related to the other databases part of your question. When novel gene mutations are found to be associated with a disease, it is of great value to the community for the mutations to be entered in the appropriate public variant/mutation databases. If the disease in question is Cancer, then COSMIC would be the place to go. For other diseases, one might consider: HGMD, GWAS Central, dbVar or dbSNP.
COSMIC - operates under the premise that all cancers are a result of DNA sequence abnormalities that confer a growth advantage to cells that harbor them. COSMIC is designed for the storage and visualization of such mutations identified as somatic in human cancers.
dbVar/dbSNP - A structural variant is defined by dbVar as a region of DNA involved in an inversion, translocation, insertion, or deletion. Although it accepts variants of any size, dbVar recommends that variants smaller than 50 bp be submitted to dbSNP and those larger than 50 bp to dbVar.
GWAS Central (formally HGVBASE) - The primary purpose of GWAS Central is to facilitate genotype-phenotype association analyses that explore how single nucleotide polymorphisms (SNPs) and other common sequence variations may influence phenotypes such as common disease risk and drug response differences.
HGMD - The Human Gene Mutation Database is an attempt to compile and organize observations of gene mutations responsible for inherited human diseases. Somatic mutations and mutations in the mitochondrial genome are excluded from the database
These definitions are snippets from the upcoming updated edition of the Bioinformatics Dictionary. Current edition is here.