I am interested to know whether there is any software or server which can annotate a genome (sequenced using NGS) from a clinical point of view. I have seen lot of pipline or software that allow users annotate genonome where they predict repeats, function and structure prediction of proteins. Is there any software that can deduce clinical related information from NGS data?
It depends on what you actually want to do. If the question is to find difference in expression patterns in a set of genes implicated in a disease condition then the same sets of softwares that are used for expression profiling in other organisms can also be used for human data. But the reference will be different. Same goes for finding novel transcripts, predicting alternative splicing and so on.
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