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  • Variants obtained from RNAseq ?

    According to the title:
    Is there any existing pipeline that could extract variants (SNPs/somatic mutations) from RNAseq bam file ? Thanks in advance.

  • #2
    If it's from RNA, how do you know it's not caused by RNA editing ? To determine changes in the genome you need to sequence the DNA.

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    • #3
      Originally posted by memento View Post
      According to the title:
      Is there any existing pipeline that could extract variants (SNPs/somatic mutations) from RNAseq bam file ? Thanks in advance.
      It's clearly perfectly possible: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760790/ it's just a shame this paper wasn't stacked against an exome sequencing dataset or SNP chip for validation.

      There is another paper I'm aware of : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898068/ which stacks the results against good depth whole genome sequencing. It's an interesting read.

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      • #4
        It definitely is a good read! Thanks!

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        • #5
          Take a look at the SNVMix2 software. It was designed for calling variants from RNA-seq and was used in two NEJM articles.

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