Article
Status quo of annotation of human disease variants.
BMC bioinformatics - 4 Dec 2013
Venselaar Hanka, Camilli Franscesca, Gholizadeh Shima, Snelleman Marlou, Brunner Han G, Vriend Gert
Abstract excerpt
BACKGROUND: The ever on-going technical developments in Next Generation Sequencing have led to an increase in detected disease related mutations. Many bioinformatics approaches exist to analyse these variants, and of those the methods that use 3D structure information generally outperform those that do not use this information. 3D structure information today is available for about twenty percent of the human...
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