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NGSphy: phylogenomic simulation of next-generation sequencing data

Escalona, Merly, Rocha, Sara, Posada, David
Bioinformatics 2018 v.34 no.14 pp. 2506-2507
bioinformatics, data collection, diploidy, genes, haploidy, high-throughput nucleotide sequencing, loci, models
Advances in sequencing technologies have made it feasible to obtain massive datasets for phylogenomic inference, often consisting of large numbers of loci from multiple species and individuals. The phylogenomic analysis of next-generation sequencing (NGS) data requires a complex computational pipeline where multiple technical and methodological decisions are necessary that can influence the final tree obtained, like those related to coverage, assembly, mapping, variant calling and/or phasing. To assess the influence of these variables we introduce NGSphy, an open-source tool for the simulation of Illumina reads/read counts obtained from haploid/diploid individual genomes with thousands of independent gene families evolving under a common species tree. In order to resemble real NGS experiments, NGSphy includes multiple options to model sequencing coverage (depth) heterogeneity across species, individuals and loci, including off-target or uncaptured loci. For comprehensive simulations covering multiple evolutionary scenarios, parameter values for the different replicates can be sampled from user-defined statistical distributions. Source code, full documentation and tutorials including a ‘Getting started’ guide are available at Supplementary data are available at Bioinformatics online.