DETECTION AND QUANTIFICATION OF RARE VARIANTS WITH LOW-DEPTH SEQUENCING VIA SELECTIVE ALLELE ENRICHMENT OR DEPLETION

摘要

This disclosure describes methods for enabling accurate detection and quantitation of rare alleles within a DNA sample using low-depth sequencing, through the use of allele-specific enrichment and/or depletion hybridization probes. For example, methods are provided for using competitive probes to apply allele-specific enrichment or depletion to amplicons from multiplex PCR on a biological DNA sample.