Abstract

The genomes of individuals from admixed populations consist of chromosomal segments of distinct ancestry. For example, the genomes of African American individuals contain segments of both African and European ancestry, so that a specific location in the genome may inherit 0, 1, or 2 copies of European ancestry. Inferring an individual's local ancestry, their number of copies of each ancestry at each location in the genome, has important applications in disease mapping and in understanding human history. Here we describe HAPMIX, a method that analyzes data from dense genotyping chips to infer local ancestry with very high precision. An important feature of HAPMIX is that it makes use of data from haplotypes (blocks of nearby markers), which are more informative for ancestry than individual markers. Our simulations demonstrate the utility of HAPMIX for local ancestry inference, and empirical applications to African American and Mozabite data sets uncover important aspects of the history of these populations.

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