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

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Figure 2.
Figure 2.

Rearrangement overlapping ANK2. A CGR partially overlapping ANK2 was identified in two unrelated Newfoundland families. (A) A schematic representation of the rearrangement. (B) IGV screenshots showcase the breakpoint region at the start of segment B (Chr 4: 111,100 kbp) in the mothers of families 1 and 2. (C) Fraction of ANK2 haplotype SNVs present in the CGR genomic region indicates a common ancestor in families 1 and 2.

This Article

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

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