Article
A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.
The Journal of molecular diagnostics : JMD - 1 Sept 2010
Hjelm Lawrence N, Chin Ephrem L H, Hegde Madhuri R, Coffee Bradford W, Bean Lora J H
Abstract excerpt
Characterizing heterozygous insertions or deletions in genes by PCR and Sanger sequencing can be a challenge due to overlapping sequencing traces produced by overlapping templates. This is particularly problematic for clinical diagnostic laboratories, because mutations must be precisely characterized. Although the mutation detection software used by clinical diagnostic laboratories reliably identifies small...
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