Figure 5.
A general flow chart for determining a personal genome sequence. The generated reads are first mapped to the reference genome to call high-quality SNPs and small Indels (Step 1) and SVs based on aberrant alignment information (Step 2). The novel insertions can be reconstructed using local de novo assembly algorithms (Step 3), and a final phasing step (Step 4) will be able to deduce the complete diploid genome of the individual.