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Quality Control.

I. Experimental approach validation.

Once defined a dataset of genes of interest (see Dataset Creation) you should presumably go first for validating your NGS experiment in terms of suitability for e.g. Diagnostic of Genetic Diseases.

A. Theoritical NGS kit Validation: The BedToBed comparisons.

Usually NGS kits suppliers provide you with a Bed file that characterizes the coverage of the kit (panel of preselected genes, whole exome, etc.)

As such you will be in a position to compare this Bed file to the Bed file generated while creating your dataset. While purely theoritical this is whatever very interesting to know if any chance exists to cover your selected genes (and so decide what experimental approach to use).

We developped a small perl code based application that will top Genes / Codex & Extended Codex tables with this information. And summarize these info. Click here to download this application.