Abstract: The present disclosure relates to a method for detection reaction volume deviations in a digital polymerase chain reaction (dPCR) and to a method for determining the amount or concentration of a nucleic acid of interest in a sample with dPCR.

Abstract: Here we describe a statistical approach based on beta mixture modelling to detect contamination and report contamination levels as both point estimates and confidence intervals in liquid biopsy samples. We validate our method with both in silico simulation and in vitro contamination spiked samples. Although we focus on liquid biopsy samples, the same strategy is applicable to any generic NGS application with minor modifications. For example, tissue samples from a biopsy can be used according to the systems and methods described herein.

Abstract: A system and method utilizes multi-sample batch controls for high throughput copy number calling in a small number of fixed regions where copy number changes are expected. The system and method utilize intermediate copy numbers applied to regions mapped with density-based clustering and prior knowledge to make final copy number calls for components.