An Auto-Reading probe system for detecting deletion mutations In liquid biopsy with direct quantification of mutation abundance.

ABSTRACT:

Background

Deletion mutations have been confirmed to be closely related to the occurrence and progression of different hereditary diseases and tumors. Specifically, the deletion of a small number of bases is more challenging to be captured and differentiated. In non-invasive prenatal testing (NIPT) and liquid biopsy targeting circulating tumor DNA, obtaining accurate mutation abundance in targeted DNA is a crucial step in the detection process. However, the quantification of mutation abundance with existing methods is not accurate enough.

Results

Herein, we developed the " Auto-Reading" probe detection system based on our previous work. Through theoretical modeling and experimental calculations, we verified the successful application of our system in NIPT and early cancer di

SUBMITTER: Zhu B 

PROVIDER: S-EPMC11365318 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature