Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

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Figure 3.
Figure 3.

Rearrangement overlapping DMD and ILRAPL1. The DMD–IL1RAPL1 fusion gene was detected in family 3. (A) A schematic representation of one of three potential rearrangement architectures, revealing the disruption of IL1RAPL1, and formation of a DMD–IL1RAPL1 fusion gene. (B) The putative DMD–IL1RAPL1 fusion gene, consisting of DMD exon 1, and IL1RAPL1 exons 3–11.

This Article

  1. Published in Advance October 29, 2024, doi: 10.1101/gr.279263.124 Genome Res. 34: 1763-1773

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