LIGATION-BASED DETECTION OF GENETIC VARIANTS

    公开(公告)号:EP3524696A1

    公开(公告)日:2019-08-14

    申请号:EP19150609.6

    申请日:2014-03-03

    IPC分类号: C12Q1/6827 C12Q1/6862

    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 complementary to a region between the fixed sequence oligonucleotides - combined with detection of levels of particular genomic regions using array hybridization.