Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

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Figure 5.
Figure 5.

Polymorphic inversions in chromosome region Xq28 and genomic disorders caused by other rearrangements. Polymorphic inversion IRs are represented as blue arrows and genes as orange arrows. Boxes indicate disorders associated with different types of recurrent pathological rearrangements (inversions in yellow, deletion in red), and complex events resulting in deletion (light purple) or in a duplication-inverted triplication-duplication structure (DUP-TRP/INV-DUP) (dark purple). (EDMD) Emery-Dreifuss muscular dystrophy, (PNH) periventricular nodular heterotopia.

This Article

  1. Published in Advance May 18, 2020, doi: 10.1101/gr.255273.119 Genome Res. 30: 724-735

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