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View Code? Open in Web Editor NEWToolkit for XClone preprocessing to detect CNVs from scRNA-seq data
License: Apache License 2.0
Toolkit for XClone preprocessing to detect CNVs from scRNA-seq data
License: Apache License 2.0
Dear xcltk developers,
First of all thank you for developing such an amazing tool along with XClone. The documentation is great!
I have encountered an issue while trying to upload the VCF file generated from the baf_pre_phase.sh script. I am unsure of how to resolve this problem since I used the reference genome you mentioned that is compatible with Sanger. Could you please suggest some solutions?
--- Aborted Job ---
The genotype probability distribution in the input file does not match the reference
panel frequencies well. The number of genotypes expected with low frequencies under HWE
(with P<=0.1) is too big in the user data: 0.32 whereas the threshold is 0.26. For comparison,
the number of these genotypes in 1000Genomes data is 0.17, the attached plot shows typical
GT distributions
This is usually an indicator of REF,ALT alleles being on incorrect strand. Another frequent
problem is the VCF using a different reference sequence, for example GRCh38 instead of GRCh37.
I also have another question regarding xcltk basefc
parameter -r <region file>
, would it be possible to provide some example of what this file should be?
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