The_GENCODE_exome___sequencing_the_complete_human_exome

We report the design of an extended set of targets for capturing the complete human exome, based on annotation from the GENCODE consortium. The extended set covers an addition 5,594 genes and 10.3 Mb compared to current sets which mainly target the CCDS database. The additional regions include potential disease genes previously inaccessible to exome resequencing studies, such as 43 genes linked to ion channel activity and 70 genes linked to protein kinase activity. In total, the new GENCODE exome set developed covers 47.9Mb and performed well in sequence capture experiments with HapMap and clinical samples. Samples within this study are prepared with either the CCDS or GENCODE exome products.本研究基于GENCODE联盟（GENCODE consortium）的注释信息，报道了一套用于捕获完整人类外显子组的扩展靶标集设计方案。相较于当前主要靶向CCDS数据库（CCDS database）的靶标集，这套扩展靶标集额外覆盖了5594个基因与10.3Mb的序列区域。新增覆盖区域包含此前外显子组重测序研究无法触及的潜在疾病相关基因，例如43个与离子通道活性相关的基因，以及70个与蛋白激酶活性相关的基因。综上，本次开发的全新GENCODE外显子组靶标集总覆盖长度达47.9Mb，在HapMap样本与临床样本的序列捕获实验中表现优异。本研究中的样本均采用CCDS或GENCODE外显子组靶标产品完成制备。