scholarly journals GenomegaMap: Within-Species Genome-Wide dN/dS Estimation from over 10,000 Genomes

2020 ◽  
Vol 37 (8) ◽  
pp. 2450-2460 ◽  
Author(s):  
Daniel J Wilson ◽  
Derrick W Crook ◽  
Timothy E A Peto ◽  
A Sarah Walker ◽  
Sarah J Hoosdally ◽  
...  

Abstract The dN/dS ratio provides evidence of adaptation or functional constraint in protein-coding genes by quantifying the relative excess or deficit of amino acid-replacing versus silent nucleotide variation. Inexpensive sequencing promises a better understanding of parameters, such as dN/dS, but analyzing very large data sets poses a major statistical challenge. Here, I introduce genomegaMap for estimating within-species genome-wide variation in dN/dS, and I apply it to 3,979 genes across 10,209 tuberculosis genomes to characterize the selection pressures shaping this global pathogen. GenomegaMap is a phylogeny-free method that addresses two major problems with existing approaches: 1) It is fast no matter how large the sample size and 2) it is robust to recombination, which causes phylogenetic methods to report artefactual signals of adaptation. GenomegaMap uses population genetics theory to approximate the distribution of allele frequencies under general, parent-dependent mutation models. Coalescent simulations show that substitution parameters are well estimated even when genomegaMap’s simplifying assumption of independence among sites is violated. I demonstrate the ability of genomegaMap to detect genuine signatures of selection at antimicrobial resistance-conferring substitutions in Mycobacterium tuberculosis and describe a novel signature of selection in the cold-shock DEAD-box protein A gene deaD/csdA. The genomegaMap approach helps accelerate the exploitation of big data for gaining new insights into evolution within species.


2019 ◽  
Author(s):  
Daniel J. Wilson ◽  

ABSTRACTThe dN/dS ratio provides evidence of adaptation or functional constraint in protein-coding genes by quantifying the relative excess or deficit of amino acid-replacing versus silent nucleotide variation. Inexpensive sequencing promises a better understanding of parameters such as dN/dS, but analysing very large datasets poses a major statistical challenge. Here I introduce genomegaMap for estimating within-species genome-wide variation in dN/dS, and I apply it to 3,979 genes across 10,209 tuberculosis genomes to characterize the selection pressures shaping this global pathogen. GenomegaMap is a phylogeny-free method that addresses two major problems with existing approaches: (i) it is fast no matter how large the sample size and (ii) it is robust to recombination, which causes phylogenetic methods to report artefactual signals of adaptation. GenomegaMap uses population genetics theory to approximate the distribution of allele frequencies under general, parent-dependent mutation models. Coalescent simulations show that substitution parameters are well-estimated even when genomegaMap’s simplifying assumption of independence among sites is violated. I demonstrate the ability of genomegaMap to detect genuine signatures of selection at antimicrobial resistance-conferring substitutions in M. tuberculosis and describe a novel signature of selection in the cold-shock DEAD-box protein A gene deaD/csdA. The genomegaMap approach helps accelerate the exploitation of big data for gaining new insights into evolution within species.



2016 ◽  
Author(s):  
Mathieu Gautier ◽  
Alexander Klassmann ◽  
Renaud Vitalis

AbstractIdentifying genomic regions with unusually high local haplotype homozygosity represents a powerful strategy to characterize candidate genes responding to natural or artificial positive selection. To that end, statistics measuring the extent of haplotype homozygosity within (e.g., EHH, iHS) and between (Rsb or XP-EHH) populations have been proposed in the literature. The rehh package for R was previously developed to facilitate genome-wide scans of selection, based on the analysis of long-range haplotypes. However, its performance wasn’t sufficient to cope with the growing size of available data sets. Here we propose a major upgrade of the rehh package, which includes an improved processing of the input files, a faster algorithm to enumerate haplotypes, as well as multi-threading. As illustrated with the analysis of large human haplotype data sets, these improvements decrease the computation time by more than an order of magnitude. This new version of rehh will thus allow performing iHS-, Rsb- or XP-EHH-based scans on large data sets. The package rehh 2.0 is available from the CRAN repository (http://cran.r-project.org/web/packages/rehh/index.html) together with help files and a detailed manual.



2017 ◽  
Author(s):  
Anthony J. Greenberg

AbstractExplosive growth in the amount of genomic data is matched by increasing power of consumer-grade computers. Even applications that require powerful servers can be quickly tested on desktop or laptop machines if we can generate representative samples from large data sets. I describe a fast and memory-efficient implementation of an on-line sampling method developed for tape drives 30 years ago. Focusing on genotype files, I test the performance of this technique on modern solid-state and spinning hard drives, and show that it performs well compared to a simple sampling scheme. I illustrate its utility by developing a method to quickly estimate genome-wide patterns of linkage disequilibrium (LD) decay with distance. I provide open-source software that samples loci from several variant format files, a separate program that performs LD decay estimates, and a C++ library that lets developers incorporate these methods into their own projects.



Author(s):  
John A. Hunt

Spectrum-imaging is a useful technique for comparing different processing methods on very large data sets which are identical for each method. This paper is concerned with comparing methods of electron energy-loss spectroscopy (EELS) quantitative analysis on the Al-Li system. The spectrum-image analyzed here was obtained from an Al-10at%Li foil aged to produce δ' precipitates that can span the foil thickness. Two 1024 channel EELS spectra offset in energy by 1 eV were recorded and stored at each pixel in the 80x80 spectrum-image (25 Mbytes). An energy range of 39-89eV (20 channels/eV) are represented. During processing the spectra are either subtracted to create an artifact corrected difference spectrum, or the energy offset is numerically removed and the spectra are added to create a normal spectrum. The spectrum-images are processed into 2D floating-point images using methods and software described in [1].



Author(s):  
Thomas W. Shattuck ◽  
James R. Anderson ◽  
Neil W. Tindale ◽  
Peter R. Buseck

Individual particle analysis involves the study of tens of thousands of particles using automated scanning electron microscopy and elemental analysis by energy-dispersive, x-ray emission spectroscopy (EDS). EDS produces large data sets that must be analyzed using multi-variate statistical techniques. A complete study uses cluster analysis, discriminant analysis, and factor or principal components analysis (PCA). The three techniques are used in the study of particles sampled during the FeLine cruise to the mid-Pacific ocean in the summer of 1990. The mid-Pacific aerosol provides information on long range particle transport, iron deposition, sea salt ageing, and halogen chemistry.Aerosol particle data sets suffer from a number of difficulties for pattern recognition using cluster analysis. There is a great disparity in the number of observations per cluster and the range of the variables in each cluster. The variables are not normally distributed, they are subject to considerable experimental error, and many values are zero, because of finite detection limits. Many of the clusters show considerable overlap, because of natural variability, agglomeration, and chemical reactivity.



Author(s):  
Mykhajlo Klymash ◽  
Olena Hordiichuk — Bublivska ◽  
Ihor Tchaikovskyi ◽  
Oksana Urikova

In this article investigated the features of processing large arrays of information for distributed systems. A method of singular data decomposition is used to reduce the amount of data processed, eliminating redundancy. Dependencies of com­putational efficiency on distributed systems were obtained using the MPI messa­ging protocol and MapReduce node interaction software model. Were analyzed the effici­ency of the application of each technology for the processing of different sizes of data: Non — distributed systems are inefficient for large volumes of information due to low computing performance. It is proposed to use distributed systems that use the method of singular data decomposition, which will reduce the amount of information processed. The study of systems using the MPI protocol and MapReduce model obtained the dependence of the duration calculations time on the number of processes, which testify to the expediency of using distributed computing when processing large data sets. It is also found that distributed systems using MapReduce model work much more efficiently than MPI, especially with large amounts of data. MPI makes it possible to perform calculations more efficiently for small amounts of information. When increased the data sets, advisable to use the Map Reduce model.



2018 ◽  
Vol 2018 (6) ◽  
pp. 38-39
Author(s):  
Austa Parker ◽  
Yan Qu ◽  
David Hokanson ◽  
Jeff Soller ◽  
Eric Dickenson ◽  
...  


Computers ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 47
Author(s):  
Fariha Iffath ◽  
A. S. M. Kayes ◽  
Md. Tahsin Rahman ◽  
Jannatul Ferdows ◽  
Mohammad Shamsul Arefin ◽  
...  

A programming contest generally involves the host presenting a set of logical and mathematical problems to the contestants. The contestants are required to write computer programs that are capable of solving these problems. An online judge system is used to automate the judging procedure of the programs that are submitted by the users. Online judges are systems designed for the reliable evaluation of the source codes submitted by the users. Traditional online judging platforms are not ideally suitable for programming labs, as they do not support partial scoring and efficient detection of plagiarized codes. When considering this fact, in this paper, we present an online judging framework that is capable of automatic scoring of codes by detecting plagiarized contents and the level of accuracy of codes efficiently. Our system performs the detection of plagiarism by detecting fingerprints of programs and using the fingerprints to compare them instead of using the whole file. We used winnowing to select fingerprints among k-gram hash values of a source code, which was generated by the Rabin–Karp Algorithm. The proposed system is compared with the existing online judging platforms to show the superiority in terms of time efficiency, correctness, and feature availability. In addition, we evaluated our system by using large data sets and comparing the run time with MOSS, which is the widely used plagiarism detection technique.



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