A phylogeny-based sampling strategy and power calculator informs genome-wide associations study design for microbial pathogens

作者：Farhat Maha R^*; Shapiro B Jesse; Sheppard Samuel K; Colijn Caroline; Murray Megan

来源：Genome Medicine, 2014, 6(11): 101.

DOI：10.1186/s13073-014-0101-7

Whole genome sequencing is increasingly used to study phenotypic variation among infectious pathogens and to evaluate their relative transmissibility, virulence, and immunogenicity. To date, relatively little has been published how and how many pathogen strains should be selected for studies associating phenotype and genotype. There are specific challenges when identifying genetic associations in bacteria which often comprise highly structured populations. Here we consider general methodological questions related to sampling and analysis focusing on clonal to moderately recombining pathogens. We propose that a matched sampling scheme constitutes an efficient study design, and provide a power calculator based on phylogenetic convergence. We demonstrate this approach by applying it to genomic datasets for two microbial pathogens: Mycobacterium tuberculosis and Campylobacter species.

• 出版日期2014-11-15