Open nbiesot opened 9 months ago
Do you mean you did not get CYP2D6*1 series in the output? Could you please share the .dat generated from the procedure? Thank you.
Yes, indeed. cyp2d6.txt
(I couldn't upload the .dat file, it was not supported)
The txt file looks fine, and I can generate the reference fasta files containing the CYP2D61 or CYP2D61.XXX . So for the 4/86 and 1/4 is the genotyping results?
One possible reason is that CYP2D6 is highly homologous to CYP2D7, and you may need to put in some CYP2D7 gene sequences in the reference.
Thank you for looking into the file! CYP2D6 is not the only gene I have looked at; I have also examined CYP2C9, CYP2C19, CYP3A5, and CYP4F2. For these genes as well, I do not get the expected output for the 16 samples I tested. If the .dat file looks good, is there another possibility for why I am not getting the expected output for these other genes?
Can you show me your running commands and your genotype.tsv file? Is your data RNA-seq or other sequencing platform?
The WGS files are available at: https://www.ebi.ac.uk/ena/browser/view/ERR1955327 The command I am using is: run-t1k -f T1K/vcf_database/cyp2d6_idx/cyp2d6_dna_seq.fa -1 ERR1955327_1.fastq.gz -2 ERR1955327_2.fastq.gz --od ERR1955327/cyp2d6 --alleleDigitUnits 1 --alleleDelimiter . -t 16 The output that results from this is: T1K_ERR1955327_1_genotype.ods
Thank you very much for your effort.
I would recommend concatenating all the dna_seq.fa from cyp genes into a combined fasta file. This way it may resolve reads that are aligned to multiple cyp genes. Another parameter to tune is the "-s" option, the default 0.8 might be to lenient. You may consider trying values like 0.9 and 0.97.
Hi,
I am trying to use T1K for PGx, following the step-by-step plan described in the vcf_database. Unfortunately, I am not getting the expected results for my samples (for example, I get for the CYP2D6 gene, 4/86 as output, where I expect 1/4).
This is the case for both the reference file I created for CYP2D6 according to the step-by-step plan and the reference files in the cyp2d6_idx folder on Git.
What could be possible reasons for not getting the expected outputs?
(The data I am using is from the Genetic Testing Reference Material Coordination Program (GeT-RM). These reference materials contain mutations of clinical importance that have been confirmed by multiple volunteer laboratories using different testing platforms, including for the CYP2D6 gene.)