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Trouble running ExomeDepth #63

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hazmup opened this issue Nov 12, 2024 · 0 comments
Open

Trouble running ExomeDepth #63

hazmup opened this issue Nov 12, 2024 · 0 comments

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@hazmup
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hazmup commented Nov 12, 2024

I am having some problems with ExomeDepth. I have a batch of 6 unrelated exomes and for each one 3-5 are selected in the reference set. There are thousands of CNVs called for all samples, with very large BFs.
I am using ExomeDepth with a hg38 exons bed file, which I got from the UCSC knownGene table. I am then discarding alternative, and sex chromosomes and switching to 'chr' convention.

(Plus, there seems to be some formatting issue in the .csv file (sample attached).
sample.xlsx)

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