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Application of DIRECT Target Enrichment to Next-Generation Sequencing of Challenging Clinical Samples

机译:直接靶向富集在挑战性临床样本的下一代测序中的应用

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Next-generation sequencing (NGS) of patient DNA has profoundly impacted the ability to provide targeted therapies for the treatment of a wide variety of diseases. As the use of NGS in the clinic expands, there is an increasing need for sample preparation methods that produce highly sensitive data for variant detection. To be clinically relevant, these methods must be compatible with challenging samples, such as FFPE DNA, which may have extensive DNA damage, or cell-free circulating tumor DNA, which often requires detection of variants present at low proportions.
机译:患者DNA的下一代测序(NGS)对提供针对性疗法的靶向治疗的能力进行了深刻的影响。由于在临床中使用NGS扩展,因此对样品制备方法的需求越来越需要产生高度敏感的变体检测数据。在临床相关中,这些方法必须与具有挑战性的样本相容,例如FFPE DNA,其可具有广泛的DNA损伤或无细胞循环肿瘤DNA,其通常需要检测在低比例下存在的变体。

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