Saturday, 5 June 2010

Sequence Variant Analyzer SVA

The rapidly evolving high-throughput DNA sequencing technologies have now allowed the fast generation of large amount of sequence data for the purpose of performing such whole-genome sequencing studies, at a reasonable cost. S equence V ariant A nalyzer, or SVA , is a software tool that we have been developing to analyze the genetic variants identified from such studies.

SVA is designed for two specific aims:
(1) To annotate the biological functions of the identified genetic variants, visualize and organize them;
(2) To help find the genetic variants associated with or responsible for the biological traits or medical outcomes of interest.

SVA is:
a program designed to run on a LINUX platform, with a graphical user interface (GUI), meaning that the main functions of this program can be done with clicking buttons.

a program specifically designed for analyzing genetic variants that have already been called (identified) from a whole genome sequencing study. So do not try to find a function here to align short reads and call variants - SVA is not designed for those purposes - many other software tools, for example, BWA and SAMTOOLS , were developed for those purposes.

How it  works

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