Computer-assisted reading of DNA sequences.

Huong Le, Marcus Hinchcliffe, Bing Yu, Ronald J A Trent
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引用次数: 5

Abstract

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.

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计算机辅助读取DNA序列。
DNA测序越来越多地用于涉及DNA诊断和研究的一系列医学活动。这是技术进步和成本降低的结果。矛盾的是,对DNA测序的更大需求给实验室带来了额外的工作,因为尽管有基于信息学的工具来解释DNA序列痕迹,但测序图谱必须通过视觉检查。在这种环境下,有必要拥有更复杂的软件,使已知和未知的DNA变异位点能够快速识别,并为生成的DNA序列提供客观的质量评估。本章描述了应用生物系统公司的SeqScape软件程序(版本2.5),以及它如何在DNA诊断实验室中协助解释DNA测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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