Is there any paper or website which explain the usage of NGS data softwares step by step for rookies?
Although this is a complicated task, there are some online resources to get you started, for example the SeqAnswers page at http://seqanswers.com/wiki/How-to/exome_analysis and a BioStar thread at http://www.biostars.org/p/1268/
best of luck
If you want to call SNP you could give a look to this guide:
http://link.springer.com/article/10.1007%2Fs00439-012-1213-z/fulltext.html
They analyze human exome data with different tools and softwares.
Hope this helps
Is it for a functional gain or a nonsense anatomical variation
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