Summary
Next generation sequencing (NGS) technologies are a powerful tool for identification and diagnostics of genetically based diseases. Today NGS is very intensive improving and getting cheaper in rapid way, and this its development makes a possibility for personal medicine appearance. Though NGS it is very powerful tool, it still requires a lot of wet lab and data analysis work. Results from the whole genome or exome sequencing give a huge amount of data that requires help of special annotation programs for its analysis and ability to automate the data filtering processes. This article introduces to the groups of annotation tools and to the databases, such as SIFT, PolyPhen, PhyloP, OMIM, Clinivar, dbSNP and others, which help the researcher to filter a huge amount of the sequencing data in order to find disease causing mutation or to filter for diagnostic purposes to find the already known disease causing mutations in particular patient. Many of these annotation tools give particular information about a single nucleotide variation (SNV), deletion or insertion. There are some specialized computer programs, like Annovar, VAAST or Varsifter used to combine data from different annotations into single file, which greatly lighten the process for finding disease causing mutation. In this article Annovar program is discussed more widely.
Keywords: next generation sequencing (NGS) genome, annotation, reference genome, mutations, Annovar program.
