Comparing vcf with dbSNP
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9.8 years ago
cvu ▴ 180

I've generated vcf file using samtools. now how do i compare my SNPs with dbSNP ?

snp alignment Assembly next-gen • 6.3k views
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9.8 years ago
poisonAlien ★ 3.2k

Assuming you have dbSNP in VCF format you can use vcf-compare

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can we use samtools or GATK for this?

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Samtools and GATK can't be used to add dbSNP rsID information to vcf file. Either you use vcf-compare as suggested above or your own script to add rsids to the vcf file. You will have to download dbSNP data from NCBI.

Check these links:

Snp Rsid By Location?

http://www.ncbi.nlm.nih.gov/books/NBK9777/#FTP.how_do_i_extract_information_from_db

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You can add dbSNP annotations with GATK using VariantAnnotator with the --dbsnp flag:

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9.8 years ago

You can annotate with dbSNP ids using SnpSift, and then with the effects of the variants using SnpEff.

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Bert Overduin ★ 3.7k

If your goal is to find out whether your SNPs are known or novel, you can also think of using the Ensembl Variant Effect Predictor (VEP).

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