Malaria haplotype frequency estimation

Wigger, Leonore and Vogt, Julia E. and Roth, Volker. (2013) Malaria haplotype frequency estimation. Statistics in medicine, Vol. 32, H. 21. pp. 3737-3751.

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Official URL: http://edoc.unibas.ch/dok/A6194591

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We present a Bayesian approach for estimating the relative frequencies of multi-single nucleotide polymorphism (SNP) haplotypes in populations of the malaria parasite Plasmodium falciparum by using microarray SNP data from human blood samples. Each sample comes from a malaria patient and contains one or several parasite clones that may genetically differ. Samples containing multiple parasite clones with different genetic markers pose a special challenge. The situation is comparable with a polyploid organism. The data from each blood sample indicates whether the parasites in the blood carry a mutant or a wildtype allele at various selected genomic positions. If both mutant and wildtype alleles are detected at a given position in a multiply infected sample, the data indicates the presence of both alleles, but the ratio is unknown. Thus, the data only partially reveals which specific combinations of genetic markers (i.e. haplotypes across the examined SNPs) occur in distinct parasite clones. In addition, SNP data may contain errors at non-negligible rates. We use a multinomial mixture model with partially missing observations to represent this data and a Markov chain Monte Carlo method to estimate the haplotype frequencies in a population. Our approach addresses both challenges, multiple infections and data errors.
Faculties and Departments:05 Faculty of Science > Departement Mathematik und Informatik > Informatik > Datenanalyse (Roth)
UniBasel Contributors:Roth, Volker and Vogt, Julia
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:06 Dec 2013 09:35
Deposited On:06 Dec 2013 09:35

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