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Chapter 6: Structural Variation and Medical Genomics

Figure 6

(Top) A discordant pair (arc) indicates a deletion with unknown breakpoints and located in orange blocks. Positions , and the minimum and maximum length of end-sequenced fragments constrain breakpoints to lie within the indicated orange blocks, and are governed by the indicated linear inequalities. (Bottom) A polygon in 2D genome space expresses the linear dependency between breakpoints and and records the uncertainty in the location of the breakpoints.

Figure 6

doi: https://doi.org/10.1371/journal.pcbi.1002821.g006