Figure 4.
Illustration of heterozygous indel signature identification in PolyScan. (A) The reference genomic DNA, (B) ideal genotype sequence with no base-calling or phase inference errors, (C) actual deduced genotype sequence with various degrees of base-calling and phase inference errors, (D) the inferred non-reference sequence, (E) alignment of the non-reference and reference sequences using the segmented alignment algorithm. The 4-bp deletion indel was concluded from multiple subsequence alignment.
