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

Figure 4

Summary of whole analysis process. DNA sample to identification of variant. The tools mentioned here are the ones we prefer to use for a variety of reasons such as having user-friendly documentation, ease of use, performance, multiplatform compatibility, and speed. See Supplementary Material and Methods for examples of parameters/commands to use where applicable.