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Fine-scale patterns of population stratification confound rare variant association tests.
O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E; NHLBIGO Exome Sequencing Project; ESP Population Genetics, Statistical Analysis Working Group; Leal SM, Akey JM. O'Connor TD, et al. PLoS One. 2013 Jul 4;8(7):e65834. doi: 10.1371/journal.pone.0065834. Print 2013. PLoS One. 2013. PMID: 23861739 Free PMC article.
Advances in next-generation sequencing technology have enabled systematic exploration of the contribution of rare variation to Mendelian and complex diseases. Although it is well known that population stratification can generate spurious associations with common alleles, i …
Advances in next-generation sequencing technology have enabled systematic exploration of the contribution of rare variation to Mendelian and …
Rare variation facilitates inferences of fine-scale population structure in humans.
O'Connor TD, Fu W; NHLBI GO Exome Sequencing Project; ESP Population Genetics and Statistical Analysis Working Group, Emily Turner; Mychaleckyj JC, Logsdon B, Auer P, Carlson CS, Leal SM, Smith JD, Rieder MJ, Bamshad MJ, Nickerson DA, Akey JM. O'Connor TD, et al. Mol Biol Evol. 2015 Mar;32(3):653-60. doi: 10.1093/molbev/msu326. Epub 2014 Nov 21. Mol Biol Evol. 2015. PMID: 25415970 Free PMC article.
To this end, we used an information theory framework and extensive coalescent simulations to rigorously quantify the informativeness of rare and common variation to detect signatures of fine-scale population structure. We show that rare variation affords unique insights in …
To this end, we used an information theory framework and extensive coalescent simulations to rigorously quantify the informativeness of rare …