BioMed Research International / 2015 / Article / Fig 1

Review Article

Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process

Figure 1

Steps in whole-exome sequencing. Understanding how the VCF file was created is important, as it can give an idea about where something may have gone wrong. The stages proceed from top to bottom and we have proposed “consideration points” for each step (below each title).

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