MutaGeneSys. estimating individual disease susceptibility based on genome-wide SNP array data. Julia Stoyanovich (Ross lab), Itsik Pe’er. Nature Genetics Question of the Year. http://www.nature.com/ng/qoty
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disease susceptibility based
on genome-wide SNP array data
Julia Stoyanovich (Ross lab), Itsik Pe’er
Complete genotype data is expensive to collect, so
In population CEU, if rs17611:C and rs942152:C then rs7036980:C, with probability 0.967.
In population YRI, if rs7516560:C then rs380390:C, with probability .609
“… Mace et al. (2005) found a significant association between a C-T SNP (rs908832) in exon 14 of the ABCA2 gene (600047) and Alzheimer disease in a large case-control study involving 440 AD patients. Additional analysis showed the strongest association between the SNP and early-onset AD (odds ratio of 3.82 for disease development in carriers of the T allele compared to controls)... “
MutaGeneSys project page
Our findings are used in
Bioinformatics 24 (3): 440, 2007.