þ 全基因组重测序(Whole genome re-sequencing,WGS)
基因组重测序是在已知物种基因组的情况下进行测序。通过对该物种的不同个体或同一个体的不同组织进行基因组重测序,可从群体或个体水平全面挖掘基因组序列差异。该方法能以较低的成本获得大量、准确的基因组信息,对人类疾病及动植物育种研究等方面具有重大的指导意义。应用领域包括个体基因组变异检测、突变体功能突变位点定位、群体遗传学分析和全基因关联分析。
全基因组重测序的优势
² 提供高分辨率的基因组碱基序列图谱;
² 将短插入和较长的片段结合使用,可对任何基因组进行特征分析;
² 发现通过其他方法可能尚未鉴定的致病等位基因;
² 识别潜在的致病性变异,为进行基因表达和调控机制的后续深入研究提供信息。
全面了解基因变异
使用新一代测序(NGS)技术分析全基因组,可提供所有基因组改变的碱基序列图谱,包括单核苷酸变异(SNV)、插入和缺失、拷贝数变化及结构变异。双末端全基因组测序过程中会对DNA片段的两端进行测序,这可以增加参考比对似然值,并有利于检测基因组重组、重复序列和基因融合。
全基因组重测序技术路线
中科普瑞科技服务团队参与lncRNA芯片发表相关文献
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