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• W2013313106 abstract "The human genome has somewhere around 30000 genes.1 If we consider that some genes such as cystic fibrosis have nearly 1000 mutations causing this rare inherited disorder, it is possible that there may be up to 30 × 106 mutations causing single gene disorders if mutations in all genes cause disease. A more conservative figure is 3 × 106. If we consider also non-disease causing polymorphisms that are thought to occur every 200–1000 bases in the 3 × 109 genome, we arrive at 3–15 million possible polymorphisms. In the case of polymorphisms these are important in common disease, in variation in drug metabolism and as markers in linkage studies. When one considers single base changes in the 3 × 109 bases and that each of these can change to one of three others, there are potentially 9 × 109 base changes possible (without insertions or deletions). Thus it is clear that there are likely to be at least tens of millions of base changes that are important to human health. In the case of single gene disorders, each mutational event needs to be characterized by at least 10 extra pieces of data, ideally more like 50,2 whereas polymorphisms perhaps need less. This means that there are at least hundreds of millions of pieces of data that are needed to fully record variation in the human genome. This is only one order of magnitude less than the task of recording the human genome sequence of 3 × 109 units. Thus it is in the interest of medical science that a system be put in place to systematically collect accurate variation data, safely store it, and make it available to those who need the data. It was this impending scenario and a need for a system to cope with it that induced the formation of the HUGO Mutation Database Initiative in 1994. Its history and progress can be seen on its website.3 It has been supported by the Human Genome Organization (HUGO) and the March of Dimes and has around 600 members in 34 countries." @default.
• W2013313106 created "2016-06-24" @default.
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• W2013313106 date "2002-01-01" @default.
• W2013313106 modified "2023-09-27" @default.
• W2013313106 title "The HUGO Mutation Database Initiative" @default.
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• W2013313106 doi "https://doi.org/10.1038/sj.tpj.6500070" @default.
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