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  • different between snp and point mutation in ngs data set

    Hi all,
    I 'm confusing about this 2 terms, i already know that in population if frequency >1% the alternative base is called snp and if <1% it called point mutation, but if i sequencing a blood sample and i have a reference genome to align my ngs dataset, how do i know the variant call from software ( e.g samtool ) is snp or point mutation.

    Thanks all in advance.

  • #2
    You can't magically determine prevalence without sequencing a LOT of people and directly measuring its frequency.

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    • #3
      The point mutation concept also includes indels, whereas SNPs are strictly substitutions. Hence, SNPs are a subtype of point mutations. The 1% SNP/point mutation divide isn't valid. A SNP is a SNP, no matter its frequency. A common SNP is a SNP that has ≥ 1% frequency..

      The HapMap project focuses only on common SNPs, those where each allele occurs in at least 1% of the population.
      Last edited by rhinoceros; 03-28-2014, 01:52 AM.
      savetherhino.org

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