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Old 05-01-2013, 02:31 PM   #1
Location: Madison, WI

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Default 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,

kreitinger is offline   Reply With Quote
Old 05-02-2013, 02:09 PM   #2
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It's a mix, pot luck. It would be lovely if we had population specific major allele references. Not quite there yet.
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Old 05-02-2013, 05:25 PM   #3
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The human reference genome is largely composed of many ~100kb haplotypes (BACs) from several individuals (~70% from an African American).
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