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

Figure 2

Post-VCF file procedures (example for sequencing data). Every step here can be automated through the use of pipelines and bioinformatics tools. Whilst performing the steps listed above, one must always bear in mind the assumptions behind the procedures. Where feasible, ranking of rare SNVs would be advised over filtering as it allows the researcher to observe all variants as a continuum from most likely to least likely.