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Novel Variants with only one Big Y test

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  • Novel Variants with only one Big Y test

    I believe that in the E1a1 project there was only one Big Y test. Will there have to be multiple users within E1a1 tested before a novel variant is determined?

    For Big Y customers who had been predicted only for E or E1a, am i correct in concluding that some of them may be found to be e1a1 ? If so would they contribute to finding novel variants?

    Were there any Big Y tests done to non-ftdna customers in various world locations (as has been done with YDNA)?

  • #2
    Any newly discovered SNP is a Novel Variant. But if it is never found in anyone else (beyond a close relative), it merely stays a Novel Variant (i.e., a private SNP).

    If the Novel Variant is eventually found in multiple unrelated men, then it may "graduate" to a Known SNP, and eventually be added to the official haplotree.

    At least, this is the scenario I think FTDNA has outlined. How efficient it will be in practice is another question. I suspect that energetic organizations like YFull will be far ahead of FTDNA on this.

    For example: A member of the rare N-P189.2 clade received his Big Y results, which included 326 Novel Variants. Luckily, another, unrelated member of that clade ordered the Big Y also. His results should share some of the first man's Novel Variants. Those shared new SNPs should eventually graduate to the status of Known SNPs.
    Last edited by lgmayka; 16th March 2014, 09:35 AM.

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    • #3
      Originally posted by lgmayka View Post
      Any newly discovered SNP is a Novel Variant. But if it is never found in anyone else (beyond a close relative), it merely stays a Novel Variant (i.e., a private SNP).

      If the Novel Variant is eventually found in multiple unrelated men, then it may "graduate" to a Known SNP, and eventually be added to the official haplotree.
      Please excuse my ignorance of these matters .... . I have 85 Novel Variants (results received last night). So if I understand correctly, the variants are SNPs which remain Private until such times as others in my L2 stream come up with one or more, at which time these "Novels" have wider ownership and cease to be "peculiar" to me. I presume, therefore, that being reasonably common at R-L2, I will see the 85 against my name slowly reduce as others come up with the same "novelties".

      Because I have a NPE just back at G GF level, will others coming to light with the same novel SNPs be closer to me at GD ... That is, would an existing 67 marker GD4 become closer if he has more of my novel SNPs - or am I thinking Apples and Oranges here .... .?

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