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Genetics DOI:10.1534/genetics.119.302120

Estimating Relatedness Between Malaria Parasites.

Publication TypeJournal Article
Year of Publication2019
AuthorsTaylor, AR, Jacob, PE, Neafsey, DE, Buckee, CO
Date Published2019 Jun 17

Understanding the relatedness of individuals within or between populations is a common goal in biology. Increasingly, relatedness features in genetic epidemiology studies of pathogens. These studies are relatively new compared to those in humans and other organisms, but are important for designing interventions and understanding pathogen transmission. Only recently have researchers begun to routinely apply relatedness to apicomplexan eukaryotic malaria parasites, and to date have used a range of different approaches on an ad hoc basis. It remains unclear how to compare different studies, therefore, and which measures to use. Here, we systematically compare measures based on identity-by-state and identity-by-descent using a globally diverse dataset of malaria parasites, and , and provide marker requirements for estimates based on identity-by-descent. We formally show that the informativeness of polyallelic markers for relatedness inference is maximised when alleles are equifrequent. Estimates based on identity-by-state are sensitive to allele frequencies, which vary across populations and by experimental design. For portability across studies, we thus recommend estimates based on identity-by-descent. To generate estimates with error below an arbitrary threshold of 0.1, we recommend approximately 100 polyallelic or 200 biallelic markers. Marker requirements are immediately applicable to haploid malaria parasites and other haploid eukaryotes. Confidence intervals facilitate comparison when different marker sets are used. This is the first attempt to provide rigorous analysis of the reliability of, and requirements for, relatedness inference in malaria genetic epidemiology, and we hope will provide a basis for statistically informed prospective study design and surveillance strategies.


Alternate JournalGenetics
PubMed ID31209105