Annotation tools and computer programs for genome/exome data analysis

Annotation tools and computer programs for genome/exome data analysis. Laboratory Medicine (in lithuanian), 15(4(60)):208-212--24, 2013.
abstract bibtex

Next generation sequencing (NGS) technologies are a powerful tool for identification and diagnostics of genetically based diseases. Today NGS is very intensive in prov ing and getting cheaper in rapid way, and its development makes a possibility for personal medicine. Though NGS 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 re quires 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 data bases, such as SIFT, PolyPhen, PhyloP, OMIM, Clinivar, dbSNP and others, which help the researcher filter a huge amount of the sequencing data in or der to find disease causing mutation or to filter for diagnostic purposes to find 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 pro grams, like Annovar, VAAST or Varsifter used to combine data from different annotations into single file, which greatly facilitates the process of finding disease causing mutation. In this article Annovar pro gram is discussed in more depth.

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