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Issue with '--keep_ambiguous' Option and Possible Bug #346
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Hi @ijorge24, thanks for the bug report! We'll make a fix. RE:
The reason we don't include ambiguous variants (A/T & C/G SNPs) by default is that often times the scores and the genotypes will be on different builds and it including these SNPs would involve tallying incorrect dosages if there has been a strand-flip across builds. Even on the same build you can get improperly strand-oriented data. To some extent this can be fixed if you know the allele-frequencies (but most scores don't come with this information so we have omitted it). Basically we set the default to no-ambiguous matches as a conservative measure but still allow users to customise the matching based on their own judgment. |
Hi again!I wanted to notify you about an issue I encountered while running the code with the '--keep_ambiguous' option: nextflow run pgscatalog/pgsc_calc -profile docker --input assets/examples/PGS000872_samplesheet.csv --pgs_id PGS000872 --target_build GRCh37 --min_overlap 0.5 |
Thanks for leeting us know! Sometimes the We were doing some integration tests with the calculator and spotted a problem with When the problems are fixed and everything is released we'll let you know and close this issue 😅 |
Description of the bug
Hi,
I was testing the code with the PGS000872 dataset using a VCF file with a few variants. I noticed that transversions were not matched by default. To include these SNVs, I had to add the '--keep_ambiguous true'option. However, when I executed the script with this option, I encountered an error in the following line: https://github.com/PGScatalog/pygscatalog/blob/main/pgscatalog.match/src/pgscatalog/match/lib/_match/label.py#L262 .
It seems that the method 'with_column' should be corrected to 'with_columns' with an 's' at the end.
Additionally, I have a question: Why is the '--keep_ambiguous' option set to false by default rather than true?
Thank you!
Command used and terminal output
Relevant files
pgsc_calc.zip
System information
pgscatalog/pgsc_calc v2.0.0-beta.1-g0f33b4c
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