Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS -: art. no. e38
Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS -: art. no. e38
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DOI：
10.1093/nar/gni038
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发表时间：
2005-01-01
影响因子：
14.9
通讯作者：
van den Boom, D
中科院分区：
文献类型：
--
作者：
Ehrich, M;Böcker, S;van den Boom, D
人类基因组计划的完成为研究人员提供了一个参考序列，该序列覆盖了约99%的基因包含区域，准确率超过99.9%。世界各地的研究人员也可以获得其他几个物种的序列草案和完成的序列。目前正在努力提供越来越多的基因组参考信息，这使得能够发现偏离这一“遗传蓝图”的情况。比较测序项目将在阐明遗传密码的意义和建立基因型与表型之间的相关性方面发挥重要作用。作为这项工作的一部分，许多项目将集中在不同的功能方面，如外显子或HLA决定区的重测序。通常，这些靶区域长度短，并且它们的分析不需要长的读取长度。为了找到这些应用的有效解决方案，我们开发了一种新的方法，该方法允许通过采用碱基特异性切割生物化学和MALDI TOF-MS分析来同时分析多个独立的靶区域（多重比较序列分析）。
The completion of the Human Genome Project provides researchers with a reference sequence that covers about 99% of the gene-containing regions and is more than 99.9% accurate. Sequence drafts and completed sequences for several other species are also available to researchers worldwide. The ongoing effort to provide more and more genomic reference information now enables the detection of deviations from this `genetic blueprint'. Comparative sequencing projects will play a major role in elucidating the meaning of the genetic code and in establishing a correlation between genotype and phenotype. As part of this effort, a number of projects will focus on distinct functional aspects, like resequencing of exons or HLA determining regions. Typically these target regions are short in length and their analysis does not require long read length. To find an efficient solution for these applications, we developed a novel method that allows simultaneous analysis of multiple independent target regions (Multiplexed Comparative Sequence Analysis) by employing base-specific cleavage biochemistry and MALDI TOF-MS analysis.