Article
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.
Journal of medical genetics - 1 Feb 2011
Carr Ian M, Camm Nick, Taylor Graham R, Charlton Ruth, Ellard Sian, Sheridan Eamonn G, Markham Alexander F, Bonthron David T
Abstract excerpt
BACKGROUND: While massively parallel DNA sequencing methods continue to evolve rapidly, the benchmark technique for detection and verification of rare (particularly disease-causing) sequence variants remains four-colour dye-terminator sequencing by capillary electrophoresis. The high throughput and long read lengths currently available have shifted the bottleneck in mutation detection away from data generation to...
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