scholarly journals ƒ‐statistics estimation and admixture graph construction with Pool‐Seq or allele count data using the R package poolfstat

Author(s):  
Mathieu Gautier ◽  
Renaud Vitalis ◽  
Laurence Flori ◽  
Arnaud Estoup
2021 ◽  
Author(s):  
Mathieu Gautier ◽  
Renaud VITALIS ◽  
Laurence Flori ◽  
Arnaud Estoup

By capturing various patterns of the structuring of genetic variation across populations, f-statistics have proved highly effective for the inference of demographic history. Such statistics are defined as covariance of SNP allele frequency differences among sets of populations without requiring haplotype information and are hence particularly relevant for the analysis of pooled sequencing (Pool-Seq) data. We here propose a reinterpretation of the F (and D) parameters in terms of probability of gene identity and derive from this unified definition unbiased estimators for both Pool-Seq and standard allele count data obtained from individual genotypes. We implemented these estimators in a new version of the R package poolfstat, which now includes a wide range of inference methods: (i) three-population test of admixture; (ii) four-population test of treeness; (iii) F4-ratio estimation of admixture rates; and (iv) fitting, visualization and (semi-automatic) construction of admixture graphs. A comprehensive evaluation of the methods implemented in poolfstat on both simulated Pool-Seq (with various sequencing coverages and error rates) and allele count data confirmed the accuracy of these approaches, even for the most cost-effective Pool-Seq design involving low sequencing coverages. We further analyzed a real Pool-Seq data made of 14 populations of the invasive species Drosophila suzukii which allowed refining both the demographic history of native populations and the invasion routes followed by this emblematic pest. Our new package poolfstat provides the community with a user-friendly and efficient all-in-one tool to unravel complex population genetic histories from large-size Pool-Seq or allele count SNP data.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Arnaud Liehrmann ◽  
Guillem Rigaill ◽  
Toby Dylan Hocking

Abstract Background Histone modification constitutes a basic mechanism for the genetic regulation of gene expression. In early 2000s, a powerful technique has emerged that couples chromatin immunoprecipitation with high-throughput sequencing (ChIP-seq). This technique provides a direct survey of the DNA regions associated to these modifications. In order to realize the full potential of this technique, increasingly sophisticated statistical algorithms have been developed or adapted to analyze the massive amount of data it generates. Many of these algorithms were built around natural assumptions such as the Poisson distribution to model the noise in the count data. In this work we start from these natural assumptions and show that it is possible to improve upon them. Results Our comparisons on seven reference datasets of histone modifications (H3K36me3 & H3K4me3) suggest that natural assumptions are not always realistic under application conditions. We show that the unconstrained multiple changepoint detection model with alternative noise assumptions and supervised learning of the penalty parameter reduces the over-dispersion exhibited by count data. These models, implemented in the R package CROCS (https://github.com/aLiehrmann/CROCS), detect the peaks more accurately than algorithms which rely on natural assumptions. Conclusion The segmentation models we propose can benefit researchers in the field of epigenetics by providing new high-quality peak prediction tracks for H3K36me3 and H3K4me3 histone modifications.


2016 ◽  
Vol 27 (2) ◽  
pp. 490-506 ◽  
Author(s):  
Jung Ae Lee ◽  
Jeff Gill

An accelerometer, a wearable motion sensor on the hip or wrist, is becoming a popular tool in clinical and epidemiological studies for measuring the physical activity. Such data provide a series of activity counts at every minute or even more often and displays a person’s activity pattern throughout a day. Unfortunately, the collected data can include irregular missing intervals because of noncompliance of participants and therefore make the statistical analysis more challenging. The purpose of this study is to develop a novel imputation method to handle the multivariate count data, motivated by the accelerometer data structure. We specify the predictive distribution of the missing data with a mixture of zero-inflated Poisson and Log-normal distribution, which is shown to be effective to deal with the minute-by-minute autocorrelation as well as under- and over-dispersion of count data. The imputation is performed at the minute level and follows the principles of multiple imputation using a fully conditional specification with the chained algorithm. To facilitate the practical use of this method, we provide an R package accelmissing. Our method is demonstrated using 2003−2004 National Health and Nutrition Examination Survey data.


2021 ◽  
Vol 11 (23) ◽  
pp. 11473
Author(s):  
Vitor Heidrich ◽  
Petr Karlovsky ◽  
Lukas Beule

Several ecological data types, especially microbiome count data, are commonly sample-wise normalized before analysis to correct for sampling bias and other technical artifacts. Recently, we developed an algorithm for the normalization of ecological count data called ‘scaling with ranked subsampling (SRS)’, which surpasses the widely adopted ‘rarefying’ (random subsampling without replacement) in reproducibility and in safeguarding the original community structure. Here, we describe an implementation of the SRS algorithm in the ‘SRS’ R package and the ‘q2-srs’ QIIME 2 plugin. We also provide accessory functions for dataset exploration to guide the choice of parameters for SRS.


Author(s):  
Giacomo Baruzzo ◽  
Ilaria Patuzzi ◽  
Barbara Di Camillo

Abstract Motivation Single cell RNA-seq (scRNA-seq) count data show many differences compared with bulk RNA-seq count data, making the application of many RNA-seq pre-processing/analysis methods not straightforward or even inappropriate. For this reason, the development of new methods for handling scRNA-seq count data is currently one of the most active research fields in bioinformatics. To help the development of such new methods, the availability of simulated data could play a pivotal role. However, only few scRNA-seq count data simulators are available, often showing poor or not demonstrated similarity with real data. Results In this article we present SPARSim, a scRNA-seq count data simulator based on a Gamma-Multivariate Hypergeometric model. We demonstrate that SPARSim allows to generate count data that resemble real data in terms of count intensity, variability and sparsity, performing comparably or better than one of the most used scRNA-seq simulator, Splat. In particular, SPARSim simulated count matrices well resemble the distribution of zeros across different expression intensities observed in real count data. Availability and implementation SPARSim R package is freely available at http://sysbiobig.dei.unipd.it/? q=SPARSim and at https://gitlab.com/sysbiobig/sparsim. Supplementary information Supplementary data are available at Bioinformatics online.


2021 ◽  
Author(s):  
Bodo Winter ◽  
Paul - Christian Bürkner

Count data is prevalent in many different areas of linguistics, such as when counting words, syntactic constructions, discourse particles, case markers, or speech errors. The Poisson distribution is the canonical distribution for characterizing count data with no or unknown upper bound. Whereas logistic regression is very common in linguistics, Poisson regression is little known. This tutorial introduces readers to foundational concepts needed for Poisson regression, followed by a hands-on tutorial using the R package brms. We discuss a dataset where Catalan and Korean speakers change the frequency of their co-speech gestures as a function of politeness contexts. This dataset also involves exposure variables (the incorporation of time to deal with unequal intervals) and overdispersion (excess variance). Altogether, we hope that more linguists will consider Poisson regression for the analysis of count data.


Author(s):  
Constantin Ahlmann-Eltze ◽  
Wolfgang Huber

Abstract Motivation The Gamma-Poisson distribution is a theoretically and empirically motivated model for the sampling variability of single cell RNA-sequencing counts (Grün et al., 2014; Svensson, 2020; Silverman et al., 2018; Hafemeister and Satija, 2019) and an essential building block for analysis approaches including differential expression analysis (Robinson et al., 2010; McCarthy et al., 2012; Anders and Huber, 2010; Love et al., 2014), principal component analysis (Townes et al., 2019) and factor analysis (Risso et al., 2018). Existing implementations for inferring its parameters from data often struggle with the size of single cell datasets, which can comprise millions of cells; at the same time, they do not take full advantage of the fact that zero and other small numbers are frequent in the data. These limitations have hampered uptake of the model, leaving room for statistically inferior approaches such as logarithm(-like) transformation. Results We present a new R package for fitting the Gamma-Poisson distribution to data with the characteristics of modern single cell datasets more quickly and more accurately than existing methods. The software can work with data on disk without having to load them into RAM simultaneously. Availability The package glmGamPoi is available from Bioconductor for Windows, macOS, and Linux, and source code is available on github.com/const-ae/glmGamPoi under a GPL-3 license.


2008 ◽  
Vol 9 (1) ◽  
pp. 125-127 ◽  
Author(s):  
P. Sólymos
Keyword(s):  

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