Allele count for SNPs
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8.3 years ago
apocalyps52 ▴ 40

Hello,

I'm trying to call SNPs from a .SAM file.

I've checked the output format of .vcf files but I couldn't find what I need.

I need to extract the counts of alleles for each SNP ID.

Something like this :

rs99999999 A:123, T:0, C:345, G:0

I'm a beginner in the field so sorry if my question looks simple but I cannot find the answer.

Can anyone tell me how to do it ?

Thanks in advance.

SNP snp sequencing next-gen • 5.5k views
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Could you provide some more information? For example what program did you use and which parameters?

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Thanks Guillaume an Noushin for detailed responses. Now, I think I can find what I need.

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7
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8.3 years ago
guillaume.rbt ★ 1.0k

You won't find this kind of count directly into a VCF file. But there is the allelic depth for the reference and the alternative alleles.

For example for this SNP:

chr_1 21682 . T C 150.0 . AC=1;AF=1.00;AN=1;DP=4;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=56.44;QD=31.06;SOR=3.258 GT:AD:DP:GQ:PL 1:0,4:4:99:180,0

The reference allele is T and the alternate allele is C. And if you look at the AD (allelic depth) field, you will find that there is 0 reads supporting the reference, and 4 reads supporting the alternate allele.

You can use a tool like SnpSift extractFields to get this field.

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Adding to Guillaume's response, you can also use samtools mpileup to get the full set of alleles from all the reads covering a genomic position (http://samtools.sourceforge.net/mpileup.shtml).

I have written a python script that converts the mpileup output to a table containing read counts.

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Thanks Noushin, your python script seems to simplify the process. I will definitely try it.

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