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  • kreitinger
    Member
    • May 2011
    • 10

    #1

    Major or Minor Alleles in Human Reference (hg19)?

    The GRC website states that the human reference genome was stitched together with sequences derived from multiple donors.

    For those of you who are more familiar with human SNP(SNV) analysis:

    Is the human reference genome composed of a mixture of major and minor SNPs corresponding to the donors' allelic profile?

    Or are all of the SNPs found in the human reference genome the major allele?

    Thank you in advance,

    Gloria
  • Bukowski
    Senior Member
    • Jan 2010
    • 388

    #2
    It's a mix, pot luck. It would be lovely if we had population specific major allele references. Not quite there yet.

    Comment

    • lh3
      Senior Member
      • Feb 2008
      • 686

      #3
      The human reference genome is largely composed of many ~100kb haplotypes (BACs) from several individuals (~70% from an African American).

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