Mutation Explorer Software for DNA Disease Diagnostics

机译：用于DNA疾病诊断的Mutation Explorer软件

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Mutation and single nucleic polymorphism (SNP) detections are essential for inherent disease and cancer diagnostics. However, it is dreadful to find DNA variations associated with real diseases from the DNA sequence data. Current DNA basecalling errors are about 1%. The DNA variations are about 0.1%. DNA diseases diagnostics lies in finding low possible mutation on high background of basecalling errors. We have developed a first software package, Mutation Explorer, in the world to detect DNA variations for disease diagnostics. It automatically not only detects homozygous and heterozygous mutation, but also detects insertions and deletions. The detection algorisms automatically pick up real DNA variations and eliminate the DNA basecallig errors with the DNA sequence traces. The mutation scores are also provided to determine the confidence level of the mutations. This multinational cooperation has resulted in a great software package for DNA disease diagnostics.

机译：突变和单核苷酸多态性（SNP）检测对于固有疾病和癌症诊断至关重要。然而，从DNA序列数据中发现与真实疾病相关的DNA变异是令人恐惧的。当前的DNA碱基检出错误约为1％。 DNA变异约为0.1％。 DNA疾病的诊断在于在碱基检出错误的高背景下找到可能的低突变。我们已经开发了世界上第一个软件包Mutation Explorer，用于检测DNA变异以进行疾病诊断。它不仅可以自动检测纯合和杂合突变，还可以检测插入和缺失。检测算法会自动拾取真实的DNA变异，并消除带有DNA序列痕迹的DNA basecallig错误。还提供了突变分数，以确定突变的置信度。这种跨国合作产生了用于DNA疾病诊断的出色软件包。

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来源
《Proceedings of the Fourth China-Japan-Korea joint symposium on medical informatics(CJKMI'02)》|2002年|p.120-123|共4页
会议地点 Beijing(CN);Beijing(CN)
作者
Ni SoYong; Rao Jiang; Fei Gao; Victor Volculescu; Bert Vogelstein; Liu Jinyi; Yu Xin; ChangSheng Liu;
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作者单位

Beijing TodaySoft Inc., Bei Er Tiao Jie #5, Zhong Guan Cun, Beijing 10080, China;

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会议组织
原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
DNA sequence; DNA variations; mutation; single nucleic polymorphism (SNP); disease diagnostics; cancer diagnostics; human genome project;

机译：DNA序列; DNA变异;突变;单核苷酸多态性（SNP）;疾病诊断;癌症诊断;人类基因组计划;

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Mutation Explorer Software for DNA Disease Diagnostics

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