PCA-based population structure inference with generic clustering algorithms

<p>Abstract</p> <p>Background</p> <p>Handling genotype data typed at hundreds of thousands of loci is very time-consuming and it is no exception for population structure inference. Therefore, we propose to apply PCA to the genotype data of a population, select the significant principal components using the Tracy-Widom distribution, and assign the individuals to one or more subpopulations using generic clustering algorithms.</p> <p>Results</p> <p>We investigated K-means, soft K-means and spectral clustering and made comparison to STRUCTURE, a model-based algorithm specifically designed for population structure inference. Moreover, we investigated methods for predicting the number of subpopulations in a population. The results on four simulated datasets and two real datasets indicate that our approach performs comparably well to STRUCTURE. For the simulated datasets, STRUCTURE and soft K-means with BIC produced identical predictions on the number of subpopulations. We also showed that, for real dataset, BIC is a better index than likelihood in predicting the number of subpopulations.</p> <p>Conclusion</p> <p>Our approach has the advantage of being fast and scalable, while STRUCTURE is very time-consuming because of the nature of MCMC in parameter estimation. Therefore, we suggest choosing the proper algorithm based on the application of population structure inference.</p

Statistical inference with anchored Bayesian mixture of regressions models: A case study analysis of allometric data

We present a case study in which we use a mixture of regressions model to improve on an ill-fitting simple linear regression model relating log brain mass to log body mass for 100 placental mammalian species. The slope of this regression model is of particular scientific interest because it corresponds to a constant that governs a hypothesized allometric power law relating brain mass to body mass. A specific line of investigation is to determine whether the regression parameters vary across subgroups of related species. We model these data using an anchored Bayesian mixture of regressions model, which modifies the standard Bayesian Gaussian mixture by pre-assigning small subsets of observations to given mixture components with probability one. These observations (called anchor points) break the relabeling invariance typical of exchangeable model specifications (the so-called label-switching problem). A careful choice of which observations to pre-classify to which mixture components is key to the specification of a well-fitting anchor model. In the article we compare three strategies for the selection of anchor points. The first assumes that the underlying mixture of regressions model holds and assigns anchor points to different components to maximize the information about their labeling. The second makes no assumption about the relationship between x and y and instead identifies anchor points using a bivariate Gaussian mixture model. The third strategy begins with the assumption that there is only one mixture regression component and identifies anchor points that are representative of a clustering structure based on case-deletion importance sampling weights. We compare the performance of the three strategies on the allometric data set and use auxiliary taxonomic information about the species to evaluate the model-based classifications estimated from these models

Iterative pruning PCA improves resolution of highly structured populations

BACKGROUND: Non-random patterns of genetic variation exist among individuals in a population owing to a variety of evolutionary factors. Therefore, populations are structured into genetically distinct subpopulations. As genotypic datasets become ever larger, it is increasingly difficult to correctly estimate the number of subpopulations and assign individuals to them. The computationally efficient non-parametric, chiefly Principal Components Analysis (PCA)-based methods are thus becoming increasingly relied upon for population structure analysis. Current PCA-based methods can accurately detect structure; however, the accuracy in resolving subpopulations and assigning individuals to them is wanting. When subpopulations are closely related to one another, they overlap in PCA space and appear as a conglomerate. This problem is exacerbated when some subpopulations in the dataset are genetically far removed from others. We propose a novel PCA-based framework which addresses this shortcoming. RESULTS: A novel population structure analysis algorithm called iterative pruning PCA (ipPCA) was developed which assigns individuals to subpopulations and infers the total number of subpopulations present. Genotypic data from simulated and real population datasets with different degrees of structure were analyzed. For datasets with simple structures, the subpopulation assignments of individuals made by ipPCA were largely consistent with the STRUCTURE, BAPS and AWclust algorithms. On the other hand, highly structured populations containing many closely related subpopulations could be accurately resolved only by ipPCA, and not by other methods. CONCLUSION: The algorithm is computationally efficient and not constrained by the dataset complexity. This systematic subpopulation assignment approach removes the need for prior population labels, which could be advantageous when cryptic stratification is encountered in datasets containing individuals otherwise assumed to belong to a homogenous population

Kernel methods for detecting coherent structures in dynamical data

We illustrate relationships between classical kernel-based dimensionality reduction techniques and eigendecompositions of empirical estimates of reproducing kernel Hilbert space (RKHS) operators associated with dynamical systems. In particular, we show that kernel canonical correlation analysis (CCA) can be interpreted in terms of kernel transfer operators and that it can be obtained by optimizing the variational approach for Markov processes (VAMP) score. As a result, we show that coherent sets of particle trajectories can be computed by kernel CCA. We demonstrate the efficiency of this approach with several examples, namely the well-known Bickley jet, ocean drifter data, and a molecular dynamics problem with a time-dependent potential. Finally, we propose a straightforward generalization of dynamic mode decomposition (DMD) called coherent mode decomposition (CMD). Our results provide a generic machine learning approach to the computation of coherent sets with an objective score that can be used for cross-validation and the comparison of different methods

Fully Automatic Expression-Invariant Face Correspondence

We consider the problem of computing accurate point-to-point correspondences among a set of human face scans with varying expressions. Our fully automatic approach does not require any manually placed markers on the scan. Instead, the approach learns the locations of a set of landmarks present in a database and uses this knowledge to automatically predict the locations of these landmarks on a newly available scan. The predicted landmarks are then used to compute point-to-point correspondences between a template model and the newly available scan. To accurately fit the expression of the template to the expression of the scan, we use as template a blendshape model. Our algorithm was tested on a database of human faces of different ethnic groups with strongly varying expressions. Experimental results show that the obtained point-to-point correspondence is both highly accurate and consistent for most of the tested 3D face models