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ACCURATE AND MASSIVELY PARALLEL QUANTIFICATION OF NUCLEIC ACID

机译:精确和并行的核酸定量

摘要

The present invention disclosure relates to a next generation DNA sequencing method and use for accurate and massively parallel quantification of one or more nucleic acid targets. More particularly, the invention is related to the method and a kit comprising probes for detecting and quantifying genetic targets in complex DNA pools primarily used for genetic target and variant detection in human and animal populations and environmental samples. Furthermore, the invention finds particular application in the field of detection of disease-causing genetic alterations in samples obtained from human body, including without limiting biopsies, saliva and other secretions, exhaled moisture extracts, tissue, blood plasma (liquid biopsies) or the like. The invention includes one or more target-specific nucleic acid probes per genetic target (left probe and right probe) and a bridge oligo.
机译:本发明公开涉及下一代DNA测序方法及其用于一个或多个核酸靶的精确且大规模平行定量的用途。更具体地,本发明涉及包括用于检测和定量复杂DNA库中的遗传靶标的探针的方法和试剂盒,所述DNA池主要用于人类和动物种群以及环境样品中的遗传靶标和变异检测。此外,本发明在检测从人体获得的样品中引起疾病​​的遗传改变的领域中具有特定的应用,包括但不限于活检,唾液和其他分泌物,呼出的水分提取物,组织,血浆(液体活检)等。 。本发明包括每个遗传靶标(左探针和右探针)和桥寡核苷酸的一种或多种靶标特异性核酸探针。

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