Article
Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels.
Journal of Alzheimer's disease : JAD - 1 Jan 2018
Lupton Michelle K, Medland Sarah E, Gordon Scott D, Goncalves Tabatha, MacGregor Stuart, Mackey David A, Young Terri L, Duffy David L, Visscher Peter M, Wray Naomi R, Nyholt Dale R, Bain Lisa, Ferreira Manuel A, Henders Anjali K, Wallace Leanne, Montgomery Grant W, Wright Margaret J, Martin Nicholas G
Abstract excerpt
Cohort studies investigating aging and dementia require APOE genotyping. We compared directly measured APOE genotypes to 'hard-call' genotypes derived from imputing genome-wide genotyping data from a range of platforms using several imputation panels. Older GWAS arrays imputed to 1000 Genomes Project (1KGP) phases and the Haplotype Reference Consortium (HRC) reference panels were able to achieve concordance rates...
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