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Chapter 6: Structural Variation and Medical Genomics

Figure 5

Paired end mapping (PEM).

Fragments from an individual genome are sequenced from both ends and the resulting paired reads are aligned to a reference genome. Most paired reads correspond to concordant pairs, where the distance between the alignment of each read agrees with the distribution of fragment lengths (right). The remaining discordant pairs suggest structural variants (here a deletion) that distinguish the individual and reference genomes.

Figure 5

doi: https://doi.org/10.1371/journal.pcbi.1002821.g005