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Fully supported CRISPR edit not detected. #429

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caonetto opened this issue Sep 25, 2023 · 2 comments
Open

Fully supported CRISPR edit not detected. #429

caonetto opened this issue Sep 25, 2023 · 2 comments

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@caonetto
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caonetto commented Sep 25, 2023

Hi,
I have a known homozygous deletion made using CRISPR which is not getting detected by sniffles 2.2 due to "STDEV_POS"
The sample is super high coverage with 416 reads supporting the deletion. The variant details are attached. Any idea whats going on???
Thanks.

Chr: contig_15
Position: 388104-388168
ID: Sniffles2.DEL.1B3S13
Reference: GTTGACAGCAACAACCTCAATGTCTTTTCTTTGCAAAGCCAATCTCAAGACCAATCTACCGATT*
Alternate: N
Qual: 60
Type: INDEL
Is Filtered Out: Yes
- STDEV_POS

Alleles:
Alternate Alleles: N
Allele Frequency: 1.0

Variant Attributes
Allele Frequency: 1.000
SUPPORT: 416
COVERAGE: [334, 339, 342, 342, 337]
SVTYPE: DEL
STDEV_POS: 1057.435
END: 388168
SVLEN: -64
![Screenshot from 2023-09-25 17-14-43](https://github.com/fritzsedlazeck/Sniffles/assets/25968988/30d7c30d-7194-424f-a282-abdfbf616e07)

STDEV_LEN: 2.267
IMPRECISE: true
STRAND: +-
NM: 0.043

Screenshot from 2023-09-25 17-14-43

@caonetto
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caonetto commented Sep 26, 2023

Hi @fritzsedlazeck
Just adding to these topic, just discovered another CRISPR homozygous deletion which is not even called at all, does not appear with the --no-qc flag and has very high coverage.

Screenshot from 2023-09-26 09-58-27

@caonetto
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Strangely, as soon as I remove the --minsupport 10 flag this variant is detected even though there are clearly more than 10 bp supporing it. ?

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