How to improve the detection rate of low-frequency mutational signals with NGS protocols?
View: 5168 / Time: 2022-11-03
① Increase the sample input:The more sample input , the copies of support low-frequency mutation detection will be more;
② Increase the number of tracked mutations: the higher the number of mutation sites, the probability of detection will be higher.
Note:a. The more sample input, the copy number that supports low-frequency mutation detection will be more higher
b. For the same sample size, the higher the number of mutation sites, the higher the detection probability;
Abbosh C, Birkbak N J, Swanton C. Early stage NSCLC—challenges to implementing ctDNA-based screening and MRD detection[J]. Nature Reviews Clinical Oncology, 2018, 15(9): 577-586.
Van Der Pol Y, Mouliere F. Toward the early detection of cancer by decoding the epigenetic and environmental fingerprints of cell-free DNA[J]. Cancer cell, 2019, 36(4): 350-368.