Computer-assisted reading of DNA sequences

DNA sequencing is increasingly used in a range of medical activities involving DNA diagnostics and research. This is the result of improving technology and cheaper costs. Paradoxically, a greater demand for DNA sequencing has placed additional work on the laboratory because sequencing profiles must...

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Bibliographic Details
Published inMethods in molecular medicine Vol. 141; p. 177
Main Authors Le, Huong, Hinchcliffe, Marcus, Yu, Bing, Trent, Ronald J A
Format Journal Article
LanguageEnglish
Published United States 2008
Subjects
Algorithms
Automatic Data Processing - methods
Databases, Genetic
DNA Mutational Analysis - methods
Globins - genetics
Humans
Polymorphism, Single Nucleotide
Quality Control
Sequence Analysis, DNA - methods
Software
Thalassemia - genetics
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Summary:DNA sequencing is increasingly used in a range of medical activities involving DNA diagnostics and research. This is the result of improving technology and cheaper costs. Paradoxically, a greater demand for DNA sequencing has placed additional work on the laboratory because sequencing profiles must be checked visually despite the availability of informatics-based tools in interpreting DNA sequence traces. In this environment it is essential to have more sophisticated software that will allow the sites of known and unknown DNA variants to be quickly identified, as well as providing an objective assessment of quality for the DNA sequence generated. This chapter describes the Applied Biosystems SeqScape software program (version 2.5) and how it has assisted in the interpretation of DNA sequencing in a DNA diagnostic laboratory.
ISSN:1543-1894
DOI:10.1007/978-1-60327-148-6_10