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.