Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

About the -d <dbSNP VCF>, is it necessary? #7

Open
wangnan9394 opened this issue Jul 9, 2020 · 1 comment
Open

About the -d <dbSNP VCF>, is it necessary? #7

wangnan9394 opened this issue Jul 9, 2020 · 1 comment
Assignees

Comments

@wangnan9394
Copy link

Hi,
dv-trio is a good tools for variants calling!And there is not have a golden standard database as an input in other species. Like me, i research on plant genome. How could we create a dbSNP VCF file?
Thank you!
Bests,
Nan

@eipVCCRI
Copy link
Contributor

Hi Nan,

In the human genome scenario, the dbSNP VCF is used to highlight common SNPs / reported SNPs, so is useful. I understand for other species, this kind of SNP database may or may not exist.

The information used from the dbsnp VCF file is the ID field

#CHROM POS ID REF ALT QUAL FILTER INFO
chr1 10230 rs775928745 AC A . . RS=775928745

If you have a database for your species, you could create a VCF with the ID of rs(your species SNP id). Use the human dbsnp as a template, location can be found in the testing-README.md.

I can see your point about -d being optional and will think about updating dv-trio to reflect that.

Thanks.
Eddie

@eipVCCRI eipVCCRI self-assigned this Feb 4, 2021
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

2 participants