Applications of next-generation sequencing. Figure 1: (a) Structural variant (Deletion) detection using genomic PEM. The deletion brings disparate points (a, b) together to a fusion point in the query. (b) An inversion event is detected by detecting the two breakpoints (a1, b1), and (a2, b2) (c) An insertion caused by a translocation is detectable and has > 2 breakpoints. (d) Insertion of novel DNA causes dangling ends, and is harder to detect. (e) RNA-seq to detect gene expression. The number of reads mapped back to each gene indicate its relative abundance between and within a sample.