Design and implementation of multiplexed amplicon sequencing panels to serve genomic epidemiology of infectious disease: A malaria case study.
amplicon sequencing
epidemiology
genome
genotyping
malaria
relatedness
Journal
Molecular ecology resources
ISSN: 1755-0998
Titre abrégé: Mol Ecol Resour
Pays: England
ID NLM: 101465604
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
revised:
05
03
2022
received:
15
09
2021
accepted:
05
04
2022
pubmed:
20
4
2022
medline:
7
7
2022
entrez:
19
4
2022
Statut:
ppublish
Résumé
Multiplexed PCR amplicon sequencing (AmpSeq) is an increasingly popular application for cost-effective monitoring of threatened species and managed wildlife populations, and shows strong potential for the genomic epidemiology of infectious disease. AmpSeq data from infectious microbes can inform disease control in multiple ways, such as by measuring drug resistance marker prevalence, distinguishing imported from local cases, and determining the effectiveness of therapeutics. We describe the design and comparative evaluation of two new AmpSeq assays for Plasmodium falciparum malaria parasites: a four-locus panel ("4CAST") composed of highly diverse antigens, and a 129-locus panel ("AMPLseq") composed of drug resistance markers, highly diverse loci for inferring relatedness, and a locus to detect Plasmodium vivax co-infection. We explore the performance of each panel in various public health use cases with in silico simulations as well as empirical experiments. The 4CAST panel appears highly suitable for evaluating the number of distinct parasite strains within samples (complexity of infection), showing strong performance across a wide range of parasitaemia levels without a DNA pre-amplification step. For relatedness inference, the larger AMPLseq panel performs similarly to two existing panels of comparable size, despite differences in the data and approach used for designing each panel. Finally, we describe an R package (paneljudge) that facilitates the design and comparative evaluation of genetic panels for relatedness estimation, and we provide general guidance on the design and implementation of AmpSeq panels for the genomic epidemiology of infectious disease.
Identifiants
pubmed: 35437908
doi: 10.1111/1755-0998.13622
pmc: PMC9288814
mid: NIHMS1819057
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2285-2303Subventions
Organisme : NIH HHS
ID : R01AI141544
Pays : United States
Organisme : Broad Institute
Organisme : National Institute of Allergy and Infectious Diseases
Organisme : British Council
Organisme : NIAID NIH HHS
ID : R01 AI141544
Pays : United States
Organisme : Division of Intramural Research, National Institute of Allergy and Infectious Diseases
Organisme : Bill and Melinda Gates Foundation
Organisme : NIAID NIH HHS
ID : U19 AI110818
Pays : United States
Informations de copyright
© 2022 The Authors. Molecular Ecology Resources published by John Wiley & Sons Ltd.
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