Isaksson Magnus, Stenberg Johan, Dahl Fredrik, Thuresson Ann-Charlotte, Bondeson Marie-Louise, Nilsson Mats
Department of Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Se-751 85 Uppsala, Sweden.
Nucleic Acids Res. 2007;35(17):e115. doi: 10.1093/nar/gkm651. Epub 2007 Sep 6.
Structural variation is an important cause of genetic variation. Whole genome analysis techniques can efficiently identify copy-number variable regions but there is a need for targeted methods, to verify and accurately size variable regions, and to diagnose large sample cohorts. We have developed a technique based on multiplex amplification of size-coded selectively circularized genomic fragments, which is robust, cheaper and more rapid than current multiplex targeted copy-number assays.
结构变异是遗传变异的一个重要原因。全基因组分析技术能够有效地识别拷贝数可变区域，但仍需要靶向方法来验证和精确确定可变区域的大小，并对大样本队列进行诊断。我们开发了一种基于对大小编码的选择性环化基因组片段进行多重扩增的技术，该技术比当前的多重靶向拷贝数检测方法更稳健、更便宜且更快速。
