摘要:
The detection of the presence of rare somatic mutations from a biological sample is often challenging due to the simultaneous presence of a vast excess of wild-type DNA. The present invention describes methods that would allow the enrichment of mutant DNA by depleting amplifiable wild-type DNA.
摘要:
Techniques are provided for determining settings of a dPCR experiment for the detection of a chromosomal aneuploidy in a plasma sample from a female pregnant with a fetus. Data about the sample, the dPCR process, and a desired accuracy can be used to determine the settings. Such settings can include a minimal input number of control chromosome molecules for the dPCR experiment, a minimal number of control chromosome molecules for a pre-amplification procedure, and a number of PCR cycles in the pre-amplification procedure. These settings can be used to satisfy the accuracy specified by the accuracy data. Thus, the dPCR experiment can be designed to achieve the desired accuracy while reducing cost, e.g., by not using more of a sample than needed and not performing more pre-amplification than needed or performing more manipulations than needed.
摘要:
The detection of the presence of rare somatic mutations from a biological sample is often challenging due to the simultaneous presence of a vast excess of wild-type DNA. The present invention describes methods that would allow the enrichment of mutant DNA by depleting amplifiable wild-type DNA.