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Genes & Disease
Sources of mutation information
There are numerous databases available that detail all types of genetic mutations and associated diseases. OMIM (Online Mendelian Inheritance in Man) is a very comprehensive database that catalogues human genes and genetic disorders associated with them. OMIMallele contains summaries on the alleles (mutations and polymorphisms) that are reported in OMIM.
HGVBASE summarises all known sequence variations in the human genome and facilitates research into how genotypes affect common diseases, drug response and other complex phenotypes. These sequence variations are presented with details of how they are physically and functionally related to the closest neighbouring gene.
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