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  • tahamasoodi
    Success
    • May 2012
    • 130

    #1

    Understanding annotation

    Hi,

    I got WGS data from Macrogen in excel files containing different fields. One of the filed there is annotation. Can anybody explain the meaning of the following terms whcih are contained in the annotation filed?

    PITRM1:NM_001242307:exon27:c.A3113G.Q1038R,PITRM1:NM_014889:exon27:c.A3110G.Q1037R,PITRM1:NM_001242309:exon24:c.A2816G.Q939R,

    Thanks,
    Thanks,
  • vivek_
    PhD Student
    • Jul 2012
    • 164

    #2
    Genename:Transcript:Exon number:Seq Change:Amino acid change

    You should look into the manual for the annotation scripts that were used for this, most likely annovar or snpEff

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