Abstract. Accurate inference of local ancestry from whole-genome genetic variation data is critical for understanding the history of admixed human populations and detecting SNPs associated with disease via admixture mapping. Although several existing methods achieve high accuracy when inferring local ancestry for individuals resulting from the admixture of genetically distant ancestral populations (e.g., AfricanAmericans), ancestry inference in the case when ancestral populations are closely related remains challenging. Surprisingly, methods based on the analysis of allele frequencies at unlinked SNP loci currently outperform methods based on haplotype analysis, despite the latter methods seemingly receiving more detailed information about the genetic makeup of ancestral populations. In this paper we propose a novel method for imputation-based local ancestry inference that exploits ancestral haplotype information more effectively than previous haplotype-based methods. Our method uses t...
Bogdan Pasaniuc, Justin Kennedy, Ion I. Mandoiu