Extended Data Fig. 4: The diagrams and alignment patterns of two unclassified complex structural variants. | Nature Methods

Extended Data Fig. 4: The diagrams and alignment patterns of two unclassified complex structural variants.

From: SVision: a deep learning approach to resolve complex structural variants

Extended Data Fig. 4: The diagrams and alignment patterns of two unclassified complex structural variants.The alternative text for this image may have been generated using AI.

a, SVision correctly detected a deleted sequence replaced with dispersed duplication and inverted duplication. b, SVision characterized a complex insertion, consisting of two dispersed duplications and one inverted duplication. Both types of (a) and (b) are labeled as unclassified (NA) in the 1KGP call set. The top panel of (a) and (b) are the discordant alignments derived from short-read sequencing (that is, one end unmapped and discordant alignment). The bottom panels of (a) and (b) describe the abnormal alignments from long-read alignment.

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