LIGATION-BASED DETECTION OF GENETIC VARIANTS

摘要

The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation -, e.g. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides - combined with detection of levels of particular genomic regions using array hybridization.