TrinityCTAT / CTAT-SPLICING

detection of cancer splicing aberrations
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Introns not identified as "cancer" introns #10

Closed Chih-Fan closed 1 month ago

Chih-Fan commented 1 month ago

Hi,

I am trying to use ctat-splicing to detect METexon14 skipping but it doesn't seem to work. In the "prefix.introns" file, I do see the variant. However, it does not appear in the "prefix.cancer.introns" file.

This is the record in the ouput "prefix.introns" file: 7:116771655-116774880 + MET^ENSG00000105976 14 0

This is the METexon14 skipping variant in the cancer_introns.GRCh38.Jun232020.tsv: chr7:116771655-116774880 MET^ENSG00000105976.13 LUAD:12:2.14,LUSC:2:0.37,LGG:1:0.19 NA METx14del

Do you have any idea why the intron is not categorized in "cancer introns"?

The command I ran: CTAT-SPLICING/STAR_to_cancer_introns.py --SJ_tab_file /input_files/sf_options/205674_sf.SJ.out.tab --chimJ_file /input_files/sf_options/205674_sf.Chimeric.out.junction --vis --bam_file /input_files/sf_options/205674_sf.Aligned.out.sorted.bam --output_prefix 205674_sf --sample_name 205674_sf --ctat_genome_lib /ctat_genome_lib_build_dir

brianjohnhaas commented 1 month ago

Hi,

It's probably because in your data, the chromosome value is '7' instead of 'chr7'. It expects that you're using our CTAT genome library for running STAR as part of STAR-Fusion.

hope this helps,

Brian

On Fri, Sep 27, 2024 at 7:23 AM Chih-Fan Chang @.***> wrote:

Hi,

I am trying to use ctat-splicing to detect METexon14 skipping but it doesn't seem to work. In the "prefix.introns" file, I do see the variant. However, it does not appear in the "prefix.cancer.introns" file.

This is the record in the ouput "prefix.introns" file: 7:116771655-116774880 + MET^ENSG00000105976 14 0

This is the METexon14 skipping variant in the cancer_introns.GRCh38.Jun232020.tsv: chr7:116771655-116774880 MET^ENSG00000105976.13 LUAD:12:2.14,LUSC:2:0.37,LGG:1:0.19 NA METx14del

Do you have any idea why the intron is not categorized in "cancer introns"?

The command I ran: CTAT-SPLICING/STAR_to_cancer_introns.py --SJ_tab_file /input_files/sf_options/205674_sf.SJ.out.tab --chimJ_file /input_files/sf_options/205674_sf.Chimeric.out.junction --vis --bam_file /input_files/sf_options/205674_sf.Aligned.out.sorted.bam --output_prefix 205674_sf --sample_name 205674_sf --ctat_genome_lib /ctat_genome_lib_build_dir

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Brian J. Haas The Broad Institute http://broadinstitute.org/~bhaas http://broad.mit.edu/~bhaas

Chih-Fan commented 1 month ago

That was indeed the problem. I fixed the reference for STAR and now ctat-splicing is able to detect METex14 skipping. Thanks a lot!

Chih-Fan