Abstract: Methods and systems for detecting MSI are provided. Also provided are methods for enriching human genomic DNA for microsatellite loci. Additionally, an oligonucleotide array for detecting MSI is provided. In some embodiments, the method for detecting MSI comprises detecting sequencing reads from a sample for a plurality of microsatellite loci; determining a metric for repeat length distribution (RLD) for each microsatellite locus; comparing the metric to a threshold value for the microsatellite locus; quantifying the number of microsatellite loci having an RLD metric exceeding the threshold value; and comparing the number of microsatellite loci having an RLD metric exceeding the threshold value to a microsatellite instability (MSI) proportion threshold.

Abstract: The invention is a method of predicting response to therapy in a colorectal cancer patient, the method comprising measuring tumor genetic heterogeneity via analysis of circulating tumor DNA from a patients sample.

Abstract: Methods and systems for detecting MSI are provided. Also provided are methods for enriching human genomic DNA for microsatellite loci. Additional, an oligonucleotide array for detecting MSI is provided.

Abstract: Techniques for identification of global cancer-specific sequence features in whole genome sequence data obtained from cell-free DNA (cfDNA) samples. An exemplary technique includes obtaining a plurality of whole genome sequencing reads from a cfDNA sample and determining two or more metrics from at least a majority of the plurality of genome sequencing reads, where a first metric of the two or more metrics is: (i) a fragment size of the cell free DNA, (ii) relative read depth of the plurality of whole genome sequencing reads, or (iii) germline allelic imbalance. The technique further includes inputting the two or more metrics into a classifier to obtain a first prediction for a first class and a second prediction for a second class, and classifying the sample of cell free DNA as the first class or the second class based on the first prediction and the second prediction.

Abstract: The invention is a method of predicting response to therapy in a colorectal cancer patient, the method comprising measuring tumor genetic heterogeneity via analysis of circulating tumor DNA from a patient's sample.