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 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
Online Access:	Get more information
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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