Question: Annotate genomic positions with dbSNP rsIds
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Although I already found some ways to annotate genomic positions with rsIDs using e.g. UCSC table browser, I'm not happy with that since I want a one-in-all linux script taking also strand issues (flipped alleles A-T vs- T-A or switched reference alleles) into account.

What I have:

chr position ref alt
10  169560   G   T
10  171117   G   A
10  171126   G   A
10  172995   A   C
10  178499   C   T

What I want:

chr position ref alt rsID
10  169560   G   T   rsXXX
10  171117   G   A   rsXXX, rsXXX
10  171126   G   A   rsXXX
10  172995   A   C   rsXXX
10  178499   C   T   rsXXX


Entering edit mode

I will write down my solution as an answer for documentation purposes. I started as Pirerre recommended, but then I used bcftools instead of GATK.

First, I created a header .txt file for the custom vcf file

##INFO=<ID=AA,Number=1,Type=String,Description="Ancestral Allele">

Then I used awk to generate the data for vcf according the specifications (8 columns). Setting ID="." == missing, Quality to 100 and PASS for the filter for all positions. Of note my_chr_pos_alt_ref.out.gz data consists only of autosomal SNVs!

zcat my_chr_pos_alt_ref.out.gz | awk '{print $1, ".", $2, $3, $4, 100, "PASS", "AA="$3}' OFS='\t' > tmp.vcf

add the header

cat header.txt tmp.vcf > mydata.vcf
rm tmp*

zipped and indexed

bgzip mydata.vcf
tabix -p vcf mydata.vcf.gz

Finally annotated rsIDs using:

bcftools annotate \
-a 00-common_all.vcf.gz \
-c ID mydata.vcf.gz \
--output-type z \
-o mydata_dbSNP151.vcf.gz

dbSNP files from

ADD COMMENTlink 8 months ago Jimbou • 690
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use awk to convert to vcf and then use gatk VariantAnnotator with --dbsnp

ADD COMMENTlink 8 months ago Pierre Lindenbaum 120k
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Thanks a lot. Started as you recommended, but switched to bcftools in the end.

ADD REPLYlink 8 months ago
• 690

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