Thank you very much
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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
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
Thank you very much
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
Thank you very much
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intersect sample vcf with reference vcf with bedtools or annotate with bcftools