Detection of microsatellite instability in cell-free DNA

摘要

Provided herein are methods of determining the microsatellite instability state of a sample. In one aspect, the method comprises quantifying a plurality of different repeat lengths present in each of the plurality of microsatellite loci from sequence information, thereby generating a site score for each of the plurality of microsatellite loci. The method is to compare the site score of a given microsatellite locus to a site-specific trained threshold for a given microsatellite locus for each of a plurality of microsatellite loci, and a microsatellite locus given a site score of a given microsatellite locus. Calling a given microsatellite locus as unstable if the site-specific trained threshold for the locus is exceeded, generating a microsatellite instability score that includes multiple unstable microsatellite loci from multiple microsatellite loci. Also includes.