A log-ratio biplot approach for exploring genetic relatedness based on identity by state

The detection of cryptic relatedness in large population-based cohorts is of great importance in genome research. The usual approach for detecting closely related individuals is to plot allele sharing statistics, based on identity-by-state or identity-by-descent, in a two-dimensional scatterplot. This approach ignores that allele sharing data across individuals has in reality a higher dimensionality, and neither regards the compositional nature of the underlying counts of shared genotypes. In this paper we develop biplot methodology based on log-ratio principal component analysis that overcomes these restrictions. This leads to entirely new graphics that are essentially useful for exploring relatedness in genetic databases from homogeneous populations. The proposed method can be applied in an iterative manner, acting as a looking glass for more remote relationships that are harder to classify. Datasets from the 1,000 Genomes Project and the Genomes For Life-GCAT Project are used to illustrate the proposed method. The discriminatory power of the log-ratio biplot approach is compared with the classical plots in a simulation study. In a non-inbred homogeneous population the classification rate of the log-ratio principal component approach outperforms the classical graphics across the whole allele frequency spectrum, using only identity by state. In these circumstances, simulations show that with 35,000 independent bi-allelic variants, log-ratio principal component analysis, combined with discriminant analysis, can correctly classify relationships up to and including the fourth degreePostprint (published version

A Log-Ratio Biplot Approach for Exploring Genetic Relatedness Based on Identity by State

The detection of cryptic relatedness in large population-based cohorts is of great importance in genome research. The usual approach for detecting closely related individuals is to plot allele sharing statistics, based on identity-by-state or identity-by-descent, in a two-dimensional scatterplot. This approach ignores that allele sharing data across individuals has in reality a higher dimensionality, and neither regards the compositional nature of the underlying counts of shared genotypes. In this paper we develop biplot methodology based on log-ratio principal component analysis that overcomes these restrictions. This leads to entirely new graphics that are essentially useful for exploring relatedness in genetic databases from homogeneous populations. The proposed method can be applied in an iterative manner, acting as a looking glass for more remote relationships that are harder to classify. Datasets from the 1,000 Genomes Project and the Genomes For Life-GCAT Project are used to illustrate the proposed method. The discriminatory power of the log-ratio biplot approach is compared with the classical plots in a simulation study. In a non-inbred homogeneous population the classification rate of the log-ratio principal component approach outperforms the classical graphics across the whole allele frequency spectrum, using only identity by state. In these circumstances, simulations show that with 35,000 independent bi-allelic variants, log-ratio principal component analysis, combined with discriminant analysis, can correctly classify relationships up to and including the fourth degree

The Research Group on Statiscial Analysis of Compositional Data

Ressenya sobre la recerca actual en estadística a Catalunya: resultats del grup d'investigació català "The Research Group on Statiscial Analysis of Compositional Data

The Research Group on Statiscial Analysis of Compositional Data

Ressenya sobre la recerca actual en estadística a Catalunya: resultats del grup d'investigació català "The Research Group on Statiscial Analysis of Compositional Data

De les dades composicionals a una geometria euclidiana sobre el símplex

La reflexió sobre la naturalesa de les dades composicionals i sobre la metodologia estadística específica per a la seva anàlisi condueix a la construcció de l?espai de les composicions i a la seva estructuració com un espai vectorial euclidià, del qual el símplex n?és l?espai suport. S?il.lustren sobre el diagrama ternari alguns dels elements més característics d?aquesta geometria.From compostional data to an Euclidean geometry on the simplex. The reflection on the nature of compositional data and on the specific statistical methodology for the analysis of this type of data leads to the construction of the space of compositions, which is structured as an Euclidean vector space, with the simplex as support space. Some of the most characteristic elements of this geometry are illustrated on ternary diagrams

De les dades composicionals a una geometria euclidiana sobre el símplex

La reflexió sobre la naturalesa de les dades composicionals i sobre la metodologia estadística específica per a la seva anàlisi condueix a la construcció de l'espai de les composicions i a la seva estructuració com un espai vectorial euclidià, del qual el símplex n'és l'espai suport. S'il·lustren sobre el diagrama ternari alguns dels elements més característics d'aquesta geometri

Multivariate ARIMA Compositional Time Series Analysis

A compositional time series is obtained when a compositional data vector is observed atdifferent points in time. Inherently, then, a compositional time series is a multivariatetime series with important constraints on the variables observed at any instance in time.Although this type of data frequently occurs in situations of real practical interest, atrawl through the statistical literature reveals that research in the field is very much in itsinfancy and that many theoretical and empirical issues still remain to be addressed. Anyappropriate statistical methodology for the analysis of compositional time series musttake into account the constraints which are not allowed for by the usual statisticaltechniques available for analysing multivariate time series. One general approach toanalyzing compositional time series consists in the application of an initial transform tobreak the positive and unit sum constraints, followed by the analysis of the transformedtime series using multivariate ARIMA models. In this paper we discuss the use of theadditive log-ratio, centred log-ratio and isometric log-ratio transforms. We also presentresults from an empirical study designed to explore how the selection of the initialtransform affects subsequent multivariate ARIMA modelling as well as the quality ofthe forecastsGeologische Vereinigung; Institut d’Estadística de Catalunya; International Association for Mathematical Geology; Càtedra Lluís Santaló d’Aplicacions de la Matemàtica; Generalitat de Catalunya, Departament d’Innovació, Universitats i Recerca; Ministerio de Educación y Ciencia; Ingenio 2010

Comparison studies of tin deposits (Priamurye, Russia) using the Aitchison’s methodology

A study of tin deposits from Priamurye (Russia) is performed to analyze the differencesbetween them based on their origin and also on commercial criteria. A particularanalysis based on their vertical zonality is also given for samples from Solnechnoedeposit. All the statistical analysis are made on the subcomposition formed by seventrace elements in cassiterite (In, Sc, Be, W, Nb, Ti and V) using the Aitchison’methodology of analysis of compositional dataGeologische Vereinigung; Institut d’Estadística de Catalunya; International Association for Mathematical Geology; Patronat de l’Escola Politècnica Superior de la Universitat de Girona; Fundació privada: Girona, Universitat i Futur; Càtedra Lluís Santaló d’Aplicacions de la Matemàtica; Consell Social de la Universitat de Girona; Ministerio de Ciencia i Tecnología.ca

Graphics for relatedness research

Studies of relatedness have been crucial in molecular ecology over the last decades. Good evidence of this is the fact that studies of population structure, evolution of social behaviours, genetic diversity and quantitative genetics all involve relatedness research. The main aim of this article is to review the most common graphical methods used in allele sharing studies for detecting and identifying family relationships. Both IBS and IBD based allele sharing studies are considered. Furthermore, we propose two additional graphical methods from the field of compositional data analysis: the ternary diagram and scatterplots of isometric log-ratios of IBS and IBD probabilities. We illustrate all graphical tools with genetic data from the HGDP-CEPH diversity panel, using mainly 377 microsatellites genotyped for 25 individuals from the Maya population of this panel. We enhance all graphics with convex hulls obtained by simulation and use these to confirm the documented relationships. The proposed compositional graphics are shown to be useful in relatedness research, as they also single out the most prominent related pairs. The ternary diagram is advocated for its ability to display all three allele sharing probabilities simultaneously. The log-ratio plots are advocated as an attempt to overcome the problems with the Euclidean distance interpretation in the classical graphics.Peer Reviewe