VARIANT ANALYSIS IN HIGH-THROUGHPUT SEQUENCING APPLICATIONS

摘要

The present invention relates to methods of determining, identifying, detecting and annotating nucleic acid sequences suspected in a sample. Particularly, the methods of the invention permit annotating nucleic acid variants present in a sample. The methods are based on data obtained in high-throughput sequencing of nucleic acids obtained from a sample. The invention relates also to computer programs capable of executing the inventive methods and apparatus suitable of running respective computer software.