Hello I'm still a beginner. I don't know how to view VCF files with their index. What's a suitable and easy-to-use program?
I need step-by-step help.
Thank you.
Hi folks,
I would like to grab the population frequencies for a list of SNPs from 1000 genome project (https://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/ ).
Currently, I am searching one snp at a time and downloading as a VCF. Is there a way for me to search my list and get the entire population data for my SNPs?
Do we have any commandline tool to handle this requirement?
The three boldfaced links at https://www.cog-genomics.org/plink/2.0/resources#1kg_phase3 provide one solution. With that dataset downloaded, plink2 can report allele frequencies for any predefined population, as well as any population you define yourself. (You can also export VCF files from it, and subsetting is frequently >10x faster than bcftools.)
Hello I'm still a beginner. I don't know how to view VCF files with their index. What's a suitable and easy-to-use program?
I need step-by-step help.
Thank you.
I would suggest downloading the sites VCF from here, http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ and using bcftools to subset it to SNPs of interest using the -R or -T flag.
Link to the sites file: http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.wgs.phase3_shapeit2_mvncall_integrated_v5b.20130502.sites.vcf.gz http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.wgs.phase3_shapeit2_mvncall_integrated_v5b.20130502.sites.vcf.gz.tbi
Are these files contain the SNPs of the populations in the entire genome? I would like to compare allele frequencies of the North European population vs the African population, is it possible?
as of January 22nd, 2025, the first link is broken/404
the first link is broken/404
Looks like there is a newer version of the files there : https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.wgs.phase3_shapeit2_mvncall_integrated_v5c.20130502.sites.vcf.gz AND https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.wgs.phase3_shapeit2_mvncall_integrated_v5c.20130502.sites.vcf.gz.tbi
Hello bioinforesearchquestions ,
if you are able to code use ensembl's REST-API, especially the variation endpoint. There also an endpoint for query multiple IDs at once.
fin swimmer
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