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Documentation of causative mutations allele frequencies

FINDbase database was initially designed to accommodate the frequencies of causative mutations leading to inherited disorders in various populations worldwide [van Baal et al., 2007; Georgitsi et al., 2011]. Database records include the population, the ethnic group and/or the geographic region, the gene name and its variation parameters, the rare allele frequencies, accompanied by links to the respective Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation database (HGMD) entries. All entries are recorded against their unique PubMed and ResearcherIDs. The current data collection includes curated allelic frequency data for more than 3,800 disease-causing mutations across 26 genes, representing over 100,000 individuals from 92 populations worldwide (August 2011 release).

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As molecular genetic testing and electronic healthcare records become increasingly common features of modern medical practice, there is a need to integrate information in genetic databases to establish a detailed understanding of how genome sequence differences impact on human health.

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