Efficient amplicon panels for evaluating hybridization and genetic structure in the Schistosoma haematobium species group

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Abstract
Genetic markers for detecting hybridization and measuring population genetic parameters must be informative and cost-effective. Most population genetic studies within the Schistosoma haematobium species group rely on either a two-marker system consisting of the mitochondrial, c ytochrome ox idase 1 ( cox 1) and the nuclear internal transcribed s pacer (ITS) markers or, at the other extreme, millions of s ingle n ucleotide v ariants (SNVs) from whole genome/exome sequencing. cox 1 and ITS studies contain minimal population genetic information but whole genome sequencing is cost-prohibitive. We examined ∼38 million previously published, whole genome SNVs genotyped in 162 S. haematobium and S. bovis sampled across Africa. We compared population genetic parameters from 4,000 panels of 10-100,000 randomly sampled SNVs to results from the whole genome dataset to test the resolution of reduced representation sequencing in schistosomes. We found that panels of 500 SNVs captured >99% of the population genetic information contained in the whole genome dataset by using Procrustes transformed principal component analyses and ancestry estimates ( r² = 0.85). Additionally, the costs of genotyping parasites with an amplicon panel is two to three times less than whole genome sequencing. Our results show that moderately-sized amplicon panels targeting random SNVs provide an efficient approach to large scale, field-based schistosome surveillance.
Funding Information
  • National Institute of Allergy and Infectious Diseases (AI166049-01)

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