WGLab / doc-ANNOVAR

Documentation for the ANNOVAR software
http://annovar.openbioinformatics.org
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Why dose convert2annovar.pl remove non-reference genotypes sites ? #172

Open chenqing-1996 opened 2 years ago

chenqing-1996 commented 2 years ago

Dear Prof. Wang,

I'm sorry for interrupting you. I am using ANNOVAR to annotate my vcf file. When I used convert2annovar.pl to convert vcf file into an avinput file, I found a problem. All my variants that GT is 0/0 directly removed. I saw a sentence in the ANNOVAR Documentation is ' The input contains seven loci, but many of them do not have non-reference genotypes for the first sample' , but I don’t quite understand why the sites that GT is 0/0 is non-reference genotypes. I have just been exposed to genome analysis, and the basic knowledge is still lacking. Looking forward to your reply!

kaichop commented 2 years ago

The GT of 0/0 means that there is no mutation at this site in this individual. It is reference genotype.

On Wed, Dec 29, 2021 at 9:51 PM qing @.***> wrote:

Dear Prof. Wang,

I'm sorry for interrupting you. I am using ANNOVAR to annotate my vcf file. When I used convert2annovar.pl to convert vcf file into an avinput file, I found a problem. All my variants that GT is 0/0 directly removed. I saw a sentence in the ANNOVAR Documentation is ' The input contains seven loci, but many of them do not have non-reference genotypes for the first sample' , but I don’t quite understand why the sites that GT is 0/0 is non-reference genotypes. I have just been exposed to genome analysis, and the basic knowledge is still lacking. Looking forward to your reply!

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