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产品中心Product Center
外显子组测序

外显子组测序


外显子(exon)是真核生物基因的一部分,包含着合成蛋白质所需要的信息。全部外显子,称为“外显子组”(Exome)。外显子组测序(Exome sequencing)是指利用序列捕获技术将全基因组外显子区域DNA捕捉并富集后进行高通量测序的基因组分析方法。由于外显子组测序只需针对外显子区域的DNA即可(例如:人类外显子组只占人类基因组长度的约1%,但是目前由DNA变异引起的疾病估计有85%以上来自于外显子组区域的变异),因此远比进行全基因组序列测序更简便、经济、高效,其目标区域覆盖度也更高,便于变异检测。目前,外显子测序已经在米勒综合症、歌舞伎综合症、重型颅脑畸形等孟德尔疾病的研究中得到成功应用?;褂衅渌恍┌┲⒑透丛有约膊∫灿τ猛庀宰硬庑蚬鄄斓礁叨认喙氐耐槐?。


Aglient SureSelect外显子捕获系统



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