gvcf joint calling
1
0
Entering edit mode
7 months ago
zihanss • 0

Hi, guys, there is a question about the genomic gVCF file. I wonder that since gVCF contains the non-var block records, why after merge all gVCF, there are still some NA in the merged gVCF file?

And in general, how many loci can be sequenced for each sample in WES?

Thank you for your time and attention, your answer will help a lot for me!

WES GATK VCF gVCF • 953 views
ADD COMMENT
1
Entering edit mode
7 months ago

Hi, guys, there is a question about the genomic gVCF file. I wonder that since gVCF contains the non-var block records, why after merge all gVCF, there are still some NA in the merged gVCF file?

If I understand your question correctly, why do you still see no-coverage/no-call areas even with say 100 or 1000 gVCFs merged? Well with exomes you should never pick up deep intergenic regions, for instance. So those areas will remain "NA" regardless of how many exome gVCFs you collect.

And in general, how many loci can be sequenced for each sample in WES?

30M base pairs

ADD COMMENT
0
Entering edit mode

Thank you for your help! I really appreciate it!

And you know, the merged WES gVCF files still have "NA" loci. For such cases, I am quite puzzled. I apologize for any confusion, but may I ask why the exonic regions are not showing as '0/0' rather than "NA"? I am not referring to intergenic or intronic regions.

Thank you for your attention and time again!

ADD REPLY
0
Entering edit mode

can you show us an exonic position in your VCF file that is all ./.?

ADD REPLY
0
Entering edit mode

enter image description here

Okay, this is the merged gVCF file.

ADD REPLY
0
Entering edit mode

enter image description here

And I confused with the file that has "./." and "0/0" at the same time. Maybe my processing pipeline is wrong in some place? That's what I mean.

ADD REPLY
0
Entering edit mode

the samples that are ./. have no coverage (or not enough to call a genotype) and the 0/0 are homozygous reference

ADD REPLY
0
Entering edit mode

Thanks for your comment, I get it now.

ADD REPLY

Login before adding your answer.

Traffic: 1800 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6