Nov 14, 2015

Detecting Heterogeneity in Population Structure Across the Genome in Admixed Populations

BioRxiv : the Preprint Server for Biology
Caitlin McHughLisa Brown


The genetic structure of human populations is often characterized by aggregating measures of ancestry across the autosomal chromosomes. While it may be reasonable to assume that population structure patterns are similar genome-wide in relatively homogeneous populations, this assumption may not be appropriate for admixed populations, such as Hispanics and African Americans, with recent ancestry from two or more continents. Recent studies have suggested that systematic ancestry differences can arise at genomic locations in admixed populations as a result of selection and non-random mating. Here, we propose a method, which we refer to as the chromosomal ancestry differences (CAnD) test, for detecting heterogeneity in population structure across the genome. CAnD uses local ancestry inferred from SNP genotype data to identify chromosomes harboring genomic regions with ancestry contributions that are significantly different than expected. In simulation studies with real genotype data from Phase III of the HapMap Project, we demonstrate the validity and power of CAnD. We apply CAnD to the HapMap Mexican American (MXL) and African American (ASW) population samples; in this analysis the software RFMix is used to infer local ancestry at ...Continue Reading

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Mentioned in this Paper

Computer Software
Antigens, Differentiation
Autosomal Chromosome Disorders
Projections and Predictions
Genome Assembly Sequence

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