| 摘要 |
A method for detecting a genetic variant in a region of interest in a DNA sample, and uses of the method, are disclosed. The method comprises: establishing a threshold frequency at or above which the genetic variant must be observed in sequencing results of amplification reactions to assign a positive determination for the presence of the genetic variant in an amplification reaction, based on method error; partitioning the DNA sample into replicate amplification reactions so that the mean number of amplifiable template molecules of the region of interest in a replicate amplification reaction is fewer than the reciprocal of the threshold frequency; performing amplification reactions and sequencing the products; determining the presence/absence of the genetic variant in each replicate amplification reaction; and integrating the results to determine the presence/absence of the genetic variant in the region of interest in the DNA sample. |
