Estimating allele frequencies by small pool PCR

摘要

Methods of the invention include the application of fluorescent technology, total genome amplification, high throughput automated microsatellite fragment analysis, robotics, and novel computational methods. Computational methods include determining a microsatellite instability (MSI) phenotype (frequency and significance of MSI over multiple loci) using SP-PCR at higher than 0.5 genome equivalents (0.5 to 2 genome equivalents).