Article
GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data
2016-11-17
Abstract excerpt
<h4>Motivation</h4> Sanger sequencing remains the reference method for sequence variant detection, especially in a clinical setting. However, chromatogram interpretation often requires manual inspection and in some cases considerable expertise. Additionally, variant reporting and nomenclature is typically left to the user, which can lead to inconsistencies. <h4>Results</h4> We introduce GLASS, a tool built to as...
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Identifiers and source
- Literature Corpus work
- 3d594685-6e15-505f-a086-688ca3e4be17
- DOI
- 10.1101/088401