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Identifying Long Reads Spanning Chromosomal Breakpoints

Hey all,

Currently I'm doing battle with some ONT Long-Read WGS data, and trying to get my feet wet with Structural Variation analysis. Right now I want to extract reads from my alignment that support a breakpoint's existence, since the usual tools have not produced satisfactory results.

My question is: if you were to fish for reads that span a chromosomal breakpoint, would you use reads that have supplementary alignments (i.e., the SA tag), or reads that have been softclipped a considerable amount, or both? I'm taking into consideration all of these subsets, but wanted to hear from the community if there is some established way to do this.

ont samtools whole-genome

1 answer

I would use both, supplementary alignments and soft-clipped reads. With delly's long-read mode you can dump all SV-supporting reads to a file:

delly lr -d dump.gz -g genome.fa input.bam

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