8 responses

  1. Phil G
    September 10, 2012

    “The multitude of variants found in the non-coding region underscores the importance of sequencing the whole genome” – No; the multitude of variants found in the non-coding region suggests that it is less-conserved and less-important. What are likely to be important are variants that are conserved within a population.

    The press release on their new technology says it will produce “600 errors across the entire 3 million base pairs,” but I am skeptical that’s the truth. More likely it will produce 600 of one particular type of error, such as base substitution errors. But what about frameshift errors? Do they assume they’re unimportant because they have a reference genome? This may not be true for cancer.

    • Peter Murray
      Peter Murray
      September 11, 2012

      You’re absolutely correct that coding regions are more conserved that non-coding regions. Complete Genomics’ stance is that non-coding regions are nevertheless still a part of the genome and its variability needs to be characterized. They’re taking up the gauntlet, because almost no one else is.

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