NG-TAS

NG-TAS profiles circulating tumor DNA (ctDNA) using targeted amplicon sequencing of low-input cell-free DNA (cfDNA) to detect and monitor cancer-associated mutations.

Key Features:

• High Sensitivity: Detects mutations in cfDNA at mutant allele fractions greater than 1%.
• Comprehensive Gene Panel: Utilizes 377 amplicons that span 20 cancer-related genes.
• Low-input cfDNA Compatibility: Enables simultaneous profiling of multiple genes from low input cfDNA samples.
• Optimized Protocol and Computational Pipeline: Combines an optimized targeted amplicon sequencing protocol with a supporting computational pipeline for mutation detection.
• Cost-Effectiveness: Optimizations in sequencing protocol and computational analysis reduce per-sample costs for ctDNA profiling.
• Validation: Panel performance was evaluated using cell-free DNA from HapMap lymphoblastoid cell lines.

Scientific Applications:

• Metastatic breast cancer monitoring: Applied to a cohort of metastatic breast cancer patients to monitor disease progression and response to treatment via cfDNA analysis.
• Longitudinal tumor dynamics: Enables tracking of genetic changes over time to assess tumor evolution and therapeutic efficacy.
• Early detection and monitoring: Provides sensitive ctDNA profiling applicable to early detection and ongoing monitoring of cancer.

Methodology:

Design of a targeted amplicon panel capturing specific regions across 20 cancer-related genes (377 amplicons); panel testing using cell-free DNA from HapMap lymphoblastoid cell lines; processing and mutation detection performed by a computational pipeline supporting the targeted amplicon sequencing workflow.