Genome-wide detection of polymorphisms at nucleotide resolution with a single DNA microarray
Genome-wide detection of polymorphisms at nucleotide resolution with a single DNA microarray
复制标题
DOI：
10.1126/science.1123726
复制
发表时间：
2006-03-31
期刊：
影响因子：
56.9
通讯作者：
Kruglyak, L
中科院分区：
文献类型：
--
作者：
Gresham, D;Ruderfer, DM;Kruglyak, L
基因组学的一个核心挑战是简单而廉价地检测一个物种个体成员基因组序列中的所有差异。我们设计了一个系统来检测基因组之间的所有单核苷酸差异，使用从单次杂交到全基因组DNA微阵列的数据。这使我们能够检测到多种自发的单碱基对取代、插入和缺失，以及两种酿酒酵母菌株之间类似的30，000种已知单核苷酸多态性中的大多数（>90%）。我们应用这种方法来阐明表型变体的遗传基础，并确定酵母实验进化过程中积累的少量单碱基对变化。
A central challenge of genomics is to detect, simply and inexpensively, all differences in sequence among the genomes of individual members of a species. We devised a system to detect all single-nucleotide differences between genomes with the use of data from a single hybridization to a whole-genome DNA microarray. This allowed us to detect a variety of spontaneous single-base pair substitutions, insertions, and deletions, and most ( >90%) of the similar to 30,000 known single-nucleotide polymorphisms between two Saccharomyces cerevisiae strains. We applied this approach to elucidate the genetic basis of phenotypic variants and to identify the small number of single-base pair changes accumulated during experimental evolution of yeast.