HIGH THROUGHPUT DETECTION OF SMALL GENOMIC DELETIONS AND INSERTIONS

摘要

The invention provides novel methods of making and designing nucleic acid probe libraries for accurate, reliable and specific detection and characterization of small nucleotide insertions or deletions (indels) or SNPs in any target nucleic acid sample. The invention further provides a probe library made by the methods and solid phase substrates coated with such probe libraries. The probe libraries of the invention allow detection of indels in a target nucleic acid segment also called a genetic variant segment. The invention further provides methods of using the probe library to detect the presence of indels in the test nucleic acid sample.