Compressed Genotyping.
Compressed Genotyping.
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DOI：
10.1109/tit.2009.2037043
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发表时间：
2010-02
影响因子：
2.5
通讯作者：
Mitra PP
中科院分区：
文献类型：
--
作者：
Erlich Y;Gordon A;Brand M;Hannon GJ;Mitra PP
在过去的三十年里，我们对许多严重疾病的遗传基础的了解稳步增加。然而，在临床上常规应用这些知识仍然存在很大的挑战，主要是由于基因分型的过程相对繁琐和昂贵。由于导致疾病的遗传变异在人群中相对罕见，因此可以将其视为稀疏信号。利用压缩传感和群体测试的方法和思想，我们开发了一种具有成本效益的基因分型方案来检测严重遗传疾病的携带者。特别是，我们已经调整了我们的计划，最近开发的一类高通量DNA测序技术。这里提出的数学框架有一些重要的区别，从“传统的”压缩传感和组测试框架，以解决我们的设置的生物和技术的限制。
Over the past three decades we have steadily increased our knowledge on the genetic basis of many severe disorders. Nevertheless, there are still great challenges in applying this knowledge routinely in the clinic, mainly due to the relatively tedious and expensive process of genotyping. Since the genetic variations that underlie the disorders are relatively rare in the population, they can be thought of as a sparse signal. Using methods and ideas from compressed sensing and group testing, we have developed a cost-effective genotyping protocol to detect carriers for severe genetic disorders. In particular, we have adapted our scheme to a recently developed class of high throughput DNA sequencing technologies. The mathematical framework presented here has some important distinctions from the ’traditional’ compressed sensing and group testing frameworks in order to address biological and technical constraints of our setting.