DNA序列的计算机辅助解读

Computer-assisted reading of DNA sequences.

作者信息

Le Huong, Hinchcliffe Marcus, Yu Bing, Trent Ronald J A

机构信息

Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.

出版信息

Methods Mol Med. 2008;141:177-97. doi: 10.1007/978-1-60327-148-6_10.

DOI:10.1007/978-1-60327-148-6_10

PMID:18453090

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.

摘要

DNA测序在一系列涉及DNA诊断和研究的医学活动中越来越常用。这是技术进步和成本降低的结果。矛盾的是，对DNA测序需求的增加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读DNA序列痕迹，但测序图谱仍必须人工检查。在这种环境下，拥有更先进的软件至关重要，该软件应能快速识别已知和未知DNA变异位点，并对所生成的DNA序列质量进行客观评估。本章介绍了应用生物系统公司的SeqScape软件程序（2.5版），以及它如何在DNA诊断实验室中辅助DNA测序的解读。