updating SNP names in VCF file
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3.9 years ago
mel22 ▴ 100

Hello How can I update SNP names from position (chr1:xxxxxx) to rs name in VCF file ? I have a reference VCF file with rs names and want to update my own data VCF file.

Thanks for your help

SNP RS names VCF • 2.6k views
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intersect sample vcf with reference vcf with bedtools or annotate with bcftools

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2
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3.9 years ago

dbSNP annotation can be added in the ID filed using the VariantAnnotator tool from GATK.

gatk  --java-options '-Xmx4G' \
   VariantAnnotator \
   -R /userdata/arup/hpcc_test/genome/hg38/hg38.fa \
   -V input.vcf.gz \
   -O output.vcf.gz \
   --dbsnp dbsnp.vcf.gz
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Thank you very much

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3.9 years ago
Jimbou ▴ 950

you can also use SnpSift from the SnpEff package http://snpeff.sourceforge.net/SnpSift.html#annotate

 java -jar SnpSift.jar annotate dbSnp132.vcf input.vcf > output_annotated.vcf

check ftp://ftp.ncbi.nih.gov/snp/organisms/ for other dbSNP builds

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Thank you very much

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