Digital polymerase chain reaction (PCR) and high-capacity multiplex PCR for next-generation sequencing

事实上，所有生物体中的每个细胞都含有一到两个被称为基因组的遗传指令副本。基因组在DNA中以一种被称为遗传密码的语言进行编码。基因组中某些地方的意外变化(其序列的改变；称为突变)可能有助于进化或产生灾难性的影响，导致有机体的疾病或死亡。所要求的仪器使我们能够确定细胞群体或组织中是否发生了特定的基因变化，并准确地计算出包含特定序列的DNA分子的数量。这一过程被称为“数字聚合酶链式反应”，也可以用来准确识别种群中是否存在突变或可变(“多态”)的DNA分子。我们所要求的系统还有助于使用一种称为DNA测序的技术有效地读取基因组的小区域。该系统将用于研究环境病原体，如细菌和携带疾病的昆虫以及模式生物的遗传动力学。它还将被用于研究哺乳动物的遗传条件，包括通常影响同伴狗的癌症。

Virtually every cell in all organisms contain one or two copies of their genetic instructions known as the genome. The genome is encoded in DNA in a language known as the genetic code. Accidental changes to certain places in the genome (alterations of its sequence; known as mutations) can contribute to evolution or can have disastrous effects, leading to diseases or death of the organism. The requested instrument allows us to determine whether specific genetic changes have occurred in a cellular population or tissue and to accurately count the number of DNA molecules containing a specific sequence. This process, known as "digital PCR", can also be used to accurately identify the presence of DNA molecules that have been mutated or are variable ("polymorphic") in a population. The system we have requested also facilitates efficient reading of small regions of a genome using a technique known as DNA sequencing. This system will be used to study the genetic dynamics in environmental pathogens such as bacteria and disease-carrying insects as well as model organisms. It will also be used to study genetic conditions in mammals including cancers that commonly affect companion dogs.