METHOD FOR DETECTING BALANCED CHROMOSOMAL ABERRATIONS IN A GENOME

摘要

The present disclosure provides methods and systems for the capture and enrichment of target nucleic acids and analysis of the enriched target nucleic acids for detecting balanced chromosomal aberrations including translocations and inversions. The present disclosure provides for the enrichment of targeted sequences in a format whereby one fusion partner gene on a capturing platform is represented to allow subsequent sequencing of chimeric nucleic acids (i.e., nucleic acid strands that carry information on different DNA regions of a genome). Such a design enables identification of novel fusion partner genes occurring as a result of a chromosomal translocation or inversion.