Computer-assisted reading of DNA sequences

• Published in: Methods in molecular medicine Vol. 141; p. 177
• Main Authors: Le, Huong, Hinchcliffe, Marcus, Yu, Bing, Trent, Ronald J A
• Format: Journal Article
• Language: English
• 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
• DOI: 10.1007/978-1-60327-148-6_10
• ISSN: 1543-1894

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.