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LONG INSERT-BASED WHOLE GENOME SEQUENCING

机译:基于长插入的全基因组测序

摘要

The present invention is directed to a method of detecting a genomic rearrangement in a nucleic acid sample with Long Insert Whole Genome Sequencing (LI-WGS). The method may include obtaining a nucleic acid sample and then fragmenting the nucleic acid sample (e.g., via sonication). In particular, the fragmenting may result in the production of a plurality of inserts. Thereafter, the method comprises purifying the plurality of inserts using magnetic beads and then amplifying the purified plurality of inserts. In addition, the method further comprises sequencing the purified and amplified plurality of inserts. In some aspects, the plurality of inserts have a length of between about 800 and about 1,100 base pairs.
机译:本发明涉及利用长插入全基因组测序(LI-WGS)检测核酸样品中的基因组重排的方法。该方法可以包括获得核酸样品,然后使核酸样品片段化(例如,通过超声处理)。特别地,碎裂可导致产生多个插入物。此后,该方法包括使用磁珠纯化多个插入物,然后扩增纯化的多个插入物。另外,该方法进一步包括对纯化和扩增的多个插入物进行测序。在一些方面,多个插入物具有约800至约1100个碱基对的长度。

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