Figure 1. Framework for noninvasive profiling of ctDNA.
(a) Theoretical ctDNA detection limits are shown for single-mutation non-invasive genotyping and multi-mutation monitoring based on a typical cfDNA yield from 10 mL blood (assuming ~50% molecule recovery8; top) (Methods). Background noise of CAPP-Seq is shown to increase as a function of lower ctDNA allele fractions, and was determined using pooled cfDNA sequencing data from 30 healthy adult controls (Methods). (b) Schematic illustrating the potential application of CAPP-Seq to noninvasive (biopsy-free) genotyping and monitoring of ctDNA.