Mutation analysis in high-throughput sequencing applications

摘要

The present invention relates to a method for determining, identifying, detecting and annotating a suspected nucleic acid sequence in a sample. In particular, the method of the invention makes it possible to annotate nucleic acid variations present in a sample. The method is based on data obtained in high-throughput sequencing of nucleic acids obtained from samples. The invention also relates to a computer program capable of carrying out the method of the invention and an apparatus suitable for running the respective computer software. [Selection] Figure 1