InterVar execution result does not show the desired annotation information.
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3.3 years ago
seabed0705 • 0

Hello, the InterVar execution result does not show the desired annotation information.

I proceeded with the tutorial as shown in InterVargithub and completed the installation after several attempts. The example was also well executed.

 ./InterVar.py -c config.ini

Below is the result of running intervar for the patient vcf file.

./Intervar.py -b hg19 -i ~/VCF/test.vcf --input_type=VCF -o test --evidence_file=evdience.txt

test.hg19_multianno.txt

The picture below is the result of drawing only the columns needed from the results of the picture above. As you can see, most of the CLNSIG contents are missing.

test_result_parsing.tsv

Somehow most of the results came out with "." Do you usually interpret and sell exonic variations only? Why are there no annotations like CADD scores?

I'd really appreciate it if you could tell me the cause of the problem and how to solve it. Personally, I think it is the limit of InterVar or a variable that requires research. Have a good night.

InterVar • 525 views
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