Abstract
Collection of variation causing disease - The Human Variome Project
Highlights
Collection of mutations causing disease began soon after the cause of thalassaemia as a mutation in the b-globin gene was established.[1]
Attempts to raise the profile of this activity and its funding began in the mid-1990s with the formation of the HUGO-Mutation Database Initiative,[7] which developed into the Human
It is clear that the genomics/ genetics community is working towards annotating regulatory regimes and other features in the Encyclopedia of DNA Elements (ENCODE) project[12], and, in five to ten years, towards having a standard reference sequence numbered from 1 to 3 Â 109
Summary
Collection of mutations (defined as variation causing disease in this paper) causing disease began soon after the cause of thalassaemia as a mutation in the b-globin gene was established.[1]. Collection of mutation data in individual genes into databases (locus-specific databases [LSDBs]) is difficult to fund and is rarely funded.[5] the fact that so many exist[6] indicates they are needed. Attempts to raise the profile of this activity and its funding began in the mid-1990s with the formation of the HUGO-Mutation Database Initiative,[7] which developed into the Human
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