Fast admixture analysis and population tree estimation for SNP and NGS data

Research output: Contribution to journalJournal articleResearchpeer-review

Motivation: Structure methods are highly used population genetic methods for classifying individuals in a sample fractionally into discrete ancestry components. Contribution: We introduce a new optimization algorithm for the classical STRUCTURE model in a maximum likelihood framework. Using analyses of real data we show that the new method finds solutions with higher likelihoods than the state-of-the-art method in the same computational time. The optimization algorithm is also applicable to models based on genotype likelihoods, that can account for the uncertainty in genotype-calling associated with Next Generation Sequencing (NGS) data. We also present a new method for estimating population trees from ancestry components using a Gaussian approximation. Using coalescence simulations of diverging populations, we explore the adequacy of the STRUCTURE-style models and the Gaussian assumption for identifying ancestry components correctly and for inferring the correct tree. In most cases, ancestry components are inferred correctly, although sample sizes and times since admixture can influence the results. We show that the popular Gaussian approximation tends to perform poorly under extreme divergence scenarios e.g. with very long branch lengths, but the topologies of the population trees are accurately inferred in all scenarios explored. The new methods are implemented together with appropriate visualization tools in the software package Ohana.

Original languageEnglish
JournalBioinformatics
Volume33
Issue number14
Pages (from-to)2148-2155
Number of pages8
ISSN1367-4803
DOIs
Publication statusPublished - 15 Jul 2017

ID: 181388792