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NGSphy: phylogenomic simulation of next-generation sequencing data

NGSphy: phylogenomic simulation of next-generation sequencing data

来源:bioRxiv_logobioRxiv
英文摘要

Abstract MotivationAdvances 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 implies 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. ResultsTo 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. AvailabilitySource code, full documentation and tutorials including a quick start guide are available at http://github.com/merlyescalona/ngsphy. Contactmerlyescalona@uvigo.es. dposada@uvigo.es

Escalona Merly、Rocha Sara、Posada David

Department of Biochemistry, Genetics and Immunology, University of VigoDepartment of Biochemistry, Genetics and Immunology, University of VigoDepartment of Biochemistry, Genetics and Immunology, University of Vigo||Biomedical Research Center (CINBIO), University of Vigo||Galicia Sur Health Research Institute

10.1101/197715

生物科学研究方法、生物科学研究技术分子生物学

Escalona Merly,Rocha Sara,Posada David.NGSphy: phylogenomic simulation of next-generation sequencing data[EB/OL].(2025-03-28)[2025-08-09].https://www.biorxiv.org/content/10.1101/197715.点此复制

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