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  • Nilaksha
    Member
    • Mar 2014
    • 18

    #1

    Transcript details from exome sequencing!!!

    I know my question is silly, but after seeing the same thing on so many places I had to ask this question.
    Is there any possibility to predict the specific transcript (obtained by alternative splicing) of a gene present in a particular individual just by exome sequencing and calling variants?

    Because we got an analysis report from a recognized institute for an exome sequence we sent which says that they have identified a nucleotide substitution of xxxxx gene, A>G and they have given the transcript ID [ENST00000xxx] as well.

    And when I explored further I found this from 1000genomes where they only did exome sequencing but no any RNA-SEQ but have annotated SNPs with transcript IDs.

    1000genomes.org is your first and best source for all of the information you’re looking for. From general topics to more of what you would expect to find here, 1000genomes.org has it all. We hope you find what you are searching for!


    Please could somebody explain this to me? I'm a novice bioinformatician
  • Brian Bushnell
    Super Moderator
    • Jan 2014
    • 2709

    #2
    You can call variations from exome sequencing, and then annotate them with what the impact is on each of the known transcripts of a gene. This does not actually predict which transcripts will be present, just what they would look like if they were present.

    Comment

    • swbarnes2
      Senior Member
      • May 2008
      • 910

      #3
      No. How could you be sure that a splice site was really a working splice site, without RNA data?

      Someone is using published transcripts, not deducing it de novo from your data.

      Comment

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