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  • Marie_Noir
    Junior Member
    • Jul 2011
    • 8

    #1

    Variants outside genes

    Dear all,

    not sure if this is the best fitting place for my question, but since it arose during bioinformatic analysis of my NGS data, I will post it here.

    I realized that although I have data from EXOME sequencing (enrichment with a standard kit from, I have to look it up, either Agilent or Nimblegen), I encountered lots of variants OUT OF known genes (as mapped onto NCBI genes, build 37). I know, that enrichtment is not 100% perfect, but I want to know what percentage of "extragenic" enrichtment is "normal"? I would be happy to hear about your experiences.

    Thanks in advance!
  • swbarnes2
    Senior Member
    • May 2008
    • 910

    #2
    Originally posted by Marie_Noir View Post
    Dear all,

    not sure if this is the best fitting place for my question, but since it arose during bioinformatic analysis of my NGS data, I will post it here.

    I realized that although I have data from EXOME sequencing (enrichment with a standard kit from, I have to look it up, either Agilent or Nimblegen), I encountered lots of variants OUT OF known genes (as mapped onto NCBI genes, build 37). I know, that enrichtment is not 100% perfect, but I want to know what percentage of "extragenic" enrichtment is "normal"? I would be happy to hear about your experiences.

    Thanks in advance!
    The companies making the kits usually promise about 60% on target. Once I got 70%. So yeah, expect a lot of off target reads.

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