Sensitive and Accurate Detection of Low-frequency Mutations via Pyrophosphorolysis-Activated Selective Amplification and MALDI-TOF-MS Single-Nucleotide Resolution Identification.

Abstract excerpt

Nucleic acid mutation profiling is crucial for early screening, diagnosis, and prognosis of cancer patients. However, detecting rare mutations at low variant allele frequencies (VAFs) in clinical samples is often hindered by interference of abundant wild-type (WT) backgrounds as well as incorrect signal readout. To tackle this challenge, we propose a Hybrid Ultrasensitive Nucleic acid Targeted Enrichment and...

Topics

• Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
• Humans
• Polymorphism, Single Nucleotide
• Mutation
• Nucleic Acid Amplification Techniques