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Missing Variant with 90% AF #112

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npatel-ah opened this issue Mar 24, 2021 · 2 comments
Closed

Missing Variant with 90% AF #112

npatel-ah opened this issue Mar 24, 2021 · 2 comments

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@npatel-ah
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Hello,

We are using LoFreq to detect mutation in a SARS-Cov2 sample, which is working quite well. However, we are puzzled with one mutation missed by LoFreq. As you can see in IGV the SNP has a frequency over > 90%. What is strange is that at the exact same position there is a deletion reported with an allele frequency of "0.000294".

Sample_igv_POS28048

I am attaching a bam file here
Sample_POS28048.zip

Thank you.

@npatel-ah
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Actually figured it out. It is due to the strand bias. I used "--no-default-filter" and was able to capture the mutation.

@andreas-wilm
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Glad you figured it out

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