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Missing somatic translocation/insertion SV breakpoint #10

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aganezov opened this issue Feb 8, 2024 · 0 comments
Open

Missing somatic translocation/insertion SV breakpoint #10

aganezov opened this issue Feb 8, 2024 · 0 comments

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@aganezov
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aganezov commented Feb 8, 2024

Version: Severus 0.1.2
Data:

  • Tumor: colo829
  • Normal: colo829bl

command executed:

Severus-0.1.2/severus.py -t 16 --target-bam colo829.b2.bam --control-bam colo829bl.b2.bam --out-dir severus_unhaplotagged --vaf-thr 0.001 --single-bp

and

Severus-0.1.2/severus.py -t 16 --target-bam colo829.b2.tagged.bam --control-bam colo829bl.b2.tagged.bam --out-dir severus_haplotagged --vaf-thr 0.001 --single-bp 

The underlying situation is rather complex with a somatic trnalocation/insetion/foldback happening (see attached jbrowse2 view).
Screenshot 2024-02-08 at 18 08 12

Severus output suggests no somatic SV presence on the left boundary. In the IGV screenshot below the supplementary alignment for a DUP-like even in HP2 is clearly visible. But does suggest presence of non-somatic translocation/SV.
Screenshot 2024-02-08 at 18 13 07

For the right boundary, somatic translocation-like SV is reported by Severus.
Screenshot 2024-02-08 at 18 17 17

Issue persists with both unhaplotagged and haplotagged input data.

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