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Add SV calling for chrMT #101

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marc-sturm opened this issue Nov 8, 2021 · 4 comments
Closed

Add SV calling for chrMT #101

marc-sturm opened this issue Nov 8, 2021 · 4 comments
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marc-sturm commented Nov 8, 2021 •
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Examples:

  • deletion chrM:12120-15541 in DX2103339_02 (WGS)
  • inversion chrM:93-4917 in DX2106403_02 (nxChrM)
@marc-sturm marc-sturm changed the title Add CNV calling for chrMT Add CNV/SV calling for chrMT Dec 15, 2021
@marc-sturm marc-sturm changed the title Add CNV/SV calling for chrMT Add SV calling for chrMT Dec 22, 2021
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Created issue to ask for best practice using Manta:
Illumina/manta#281

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Manta can neither call the SVs in gemline nor in tumor-only mode.
Delly can call them.

Data can be found in:
/mnt/users/ahsturm1/Sandbox/2022_01_10_sv_calling_chrMT/

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Lara will have a look at the data.

@marc-sturm marc-sturm self-assigned this Jan 13, 2022
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no feedback from diagnostics team > close

@marc-sturm marc-sturm closed this as not planned Won't fix, can't repro, duplicate, stale Jun 30, 2023
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