Major or Minor Alleles in Human Reference (hg19)?

kreitinger · 05-01-2013, 02:31 PM

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 · 05-02-2013, 02:09 PM

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

lh3 · 05-02-2013, 05:25 PM

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

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05-01-2013, 02:31 PM	#1
kreitinger Member Location: Madison, WI Join Date: May 2011 Posts: 10	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

05-02-2013, 02:09 PM	#2
Bukowski Senior Member Location: UK Join Date: Jan 2010 Posts: 390	It's a mix, pot luck. It would be lovely if we had population specific major allele references. Not quite there yet.

05-02-2013, 05:25 PM	#3
lh3 Senior Member Location: Boston Join Date: Feb 2008 Posts: 693	The human reference genome is largely composed of many ~100kb haplotypes (BACs) from several individuals (~70% from an African American).