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Old 11-06-2013, 12:32 AM   #1
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Location: Europe

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Default vcf-consensus for individuals from 1000G


I would like to create consensus sequence for an individual from 1000G where the sequence incorporates variants typed for this individual.

Using tabix and vcf-tools (vcf-subset), I extracted the relevant variant information from 1000G SNP call files.

At this point, I have variants per chromosome for individual HG000096.

I would like to incorporate these variants into reference coding sequence.

I downloaded all protein-coding sequences for the GRCh37 version from Ensembl Biomart.

An example with trimmed sequence looks like this:

Note: typical fasta sequence file with the header including gene|transcript|protein|chr|chr_start|chr_end

My understanding is that there are a few alternatives out there to produce consensus sequences given a reference fasta sequence and variant call file: (1) AlternativeReferenceMaker, (2) vcf-consensus, (3) mpileup.

I would like to use vcf-consensus for my task.

vcftools describes the use of vcf-consensus as follows:

cat ref.fa | vcf-consensus file.vcf.gz > out.fa
I presume that the reference file here refers to the reference DNA sequence including coding and non-coding parts of the genome. In that case, my protein-coding sequence above would not work as an acceptable reference sequence. Nevertheless, I am only interested in the protein-coding part.

How can I modify vcf-consensus or my input sequences to create consensus coding sequence for HG00096 given the reference coding sequence and his variants?

Thank you very much.

As soon as I figure out a way to get this done, I will have a follow-up question concerning the diploidy, that is, how can I tell whether a variant is called at a heterozygous site or not.
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Old 11-06-2013, 04:30 AM   #2
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cross posted on biostars:
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Old 11-06-2013, 04:43 AM   #3
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cross posted on biostars:
Yes! Thank you for the link.
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Old 02-23-2017, 01:36 AM   #4
Location: india

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Can anybody help to figure out this problem?
rajeshkmaurya08 is offline   Reply With Quote

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