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Deconvoluting multiple infections in Plasmodium falciparum from high throughput sequencing data

Sha Joe Zhu, Jacob Almagro-Garcia, Gil McVean
doi: https://doi.org/10.1101/099499
Sha Joe Zhu
1Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
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  • For correspondence: joe.zhu@well.ox.ac.uk mcvean@well.ox.ac.uk
Jacob Almagro-Garcia
1Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
2Medical Research Council (MRC) Centre for Genomics and Global Health, University of Oxford, Oxford, UK
3Wellcome Trust Sanger Institute, Hinxton, UK
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Gil McVean
1Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
4Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK
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  • For correspondence: joe.zhu@well.ox.ac.uk mcvean@well.ox.ac.uk
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Abstract

Motivation: The presence of multiple infecting strains of the malarial parasite Plasmodium falciparum affects key phenotypic traits, including drug resistance and risk of severe disease. Advances in protocols and sequencing technology have made it possible to obtain high-coverage genome-wide sequencing data from blood samples and blood spots taken in the field. However, analysing and interpreting such data is challenging because of the high rate of multiple infections present.

Results: We have developed a statistical method and implementation for deconvoluting multiple genome sequences present in an individual with mixed infections. The software package DEploid uses haplotype structure within a reference panel of clonal isolates as a prior for haplotypes present in a given sample. It estimates the number of strains, their relative proportions and the haplotypes presented in a sample, allowing researchers to study multiple infection in malaria with an unprecedented level of detail.

Results: The open source implementation DEploid is freely available at https://github.com/mcveanlab/dEploid under the conditions of the GPLv3 license. An R version is available at https://github.com/mcveanlab/DEploid-r.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
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Posted January 10, 2017.
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Deconvoluting multiple infections in Plasmodium falciparum from high throughput sequencing data
Sha Joe Zhu, Jacob Almagro-Garcia, Gil McVean
bioRxiv 099499; doi: https://doi.org/10.1101/099499
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Deconvoluting multiple infections in Plasmodium falciparum from high throughput sequencing data
Sha Joe Zhu, Jacob Almagro-Garcia, Gil McVean
bioRxiv 099499; doi: https://doi.org/10.1101/099499

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