scholarly journals Fully-sensitive Seed Finding in Sequence Graphs Using a Hybrid Index

2019 ◽  
Author(s):  
Ali Ghaffaari ◽  
Tobias Marschall
Keyword(s):  
Simulated Data ◽  
Genome Project ◽  
Hybrid Index ◽  
Read Mapping ◽  
Data Set ◽  
Combinatorial Explosion ◽  
Complex Graph ◽  
Diploid Individual ◽  
Project Data ◽  
Genome Graph

AbstractMotivationSequence graphs are versatile data structures that are, for instance, able to represent the genetic variation found in a population and to facilitate genome assembly. Read mapping to sequence graphs constitutes an important step for many applications and is usually done by first finding exact seed matches, which are then extended by alignment. Existing methods for finding seed hits prune the graph in complex regions, leading to a loss of information especially in highly polymorphic regions of the genome. While such complex graph structures can indeed lead to a combinatorial explosion of possible alleles, the query set of reads from a diploid individual realizes only two alleles per locus—a property that is not exploited by extant methods.ResultsWe present thePan-genomeSeedIndex (PSI), a fully-sensitive hybrid method for seed finding, which takes full advantage of this property by combining an index over selected paths in the graph with an index over the query reads. This enables PSI to find all seeds while eliminating the need to prune the graph. We demonstrate its performance with different parameter settings on both simulated data and on a whole human genome graph constructed from variants in the 1000 Genome Project data set. On this graph, PSI outperforms GCSA2 in terms of index size, query time, and sensitivity.AvailabilityThe C++ implementation is publicly available at:https://github.com/cartoonist/psi.

scholarly journals Fully-sensitive seed finding in sequence graphs using a hybrid index

2019 ◽  
Vol 35 (14) ◽  
pp. i81-i89 ◽  
Author(s):  
Ali Ghaffaari ◽  
Tobias Marschall
Keyword(s):  
Simulated Data ◽  
Genome Project ◽  
Hybrid Index ◽  
Read Mapping ◽  
Combinatorial Explosion ◽  
Complex Graph ◽  
Seed Index ◽  
Diploid Individual ◽  
Index Size ◽  
Genome Graph

Abstract Motivation Sequence graphs are versatile data structures that are, for instance, able to represent the genetic variation found in a population and to facilitate genome assembly. Read mapping to sequence graphs constitutes an important step for many applications and is usually done by first finding exact seed matches, which are then extended by alignment. Existing methods for finding seed hits prune the graph in complex regions, leading to a loss of information especially in highly polymorphic regions of the genome. While such complex graph structures can indeed lead to a combinatorial explosion of possible alleles, the query set of reads from a diploid individual realizes only two alleles per locus—a property that is not exploited by extant methods. Results We present the Pan-genome Seed Index (PSI), a fully-sensitive hybrid method for seed finding, which takes full advantage of this property by combining an index over selected paths in the graph with an index over the query reads. This enables PSI to find all seeds while eliminating the need to prune the graph. We demonstrate its performance with different parameter settings on both simulated data and on a whole human genome graph constructed from variants in the 1000 Genome Project dataset. On this graph, PSI outperforms GCSA2 in terms of index size, query time and sensitivity. Availability and implementation The C++ implementation is publicly available at: https://github.com/cartoonist/psi.

scholarly journals Efficiently Summarizing Relationships in Large Samples: A General Duality Between Statistics of Genealogies and Genomes

Genetics ◽  
2020 ◽  
Vol 215 (3) ◽  
pp. 779-797 ◽  
Author(s):  
Peter Ralph ◽  
Kevin Thornton ◽  
Jerome Kelleher
Keyword(s):  
Genome Sequence ◽  
General Framework ◽  
Simulated Data ◽  
Genetic Mutation ◽  
Data Set ◽  
Genealogical Tree ◽  
Computational Performance ◽  
Infinite Sites Model ◽  
Project Data ◽  
And Function

As a genetic mutation is passed down across generations, it distinguishes those genomes that have inherited it from those that have not, providing a glimpse of the genealogical tree relating the genomes to each other at that site. Statistical summaries of genetic variation therefore also describe the underlying genealogies. We use this correspondence to define a general framework that efficiently computes single-site population genetic statistics using the succinct tree sequence encoding of genealogies and genome sequence. The general approach accumulates sample weights within the genealogical tree at each position on the genome, which are then combined using a summary function; different statistics result from different choices of weight and function. Results can be reported in three ways: by site, which corresponds to statistics calculated as usual from genome sequence; by branch, which gives the expected value of the dual site statistic under the infinite sites model of mutation, and by node, which summarizes the contribution of each ancestor to these statistics. We use the framework to implement many currently defined statistics of genome sequence (making the statistics’ relationship to the underlying genealogical trees concrete and explicit), as well as the corresponding branch statistics of tree shape. We evaluate computational performance using simulated data, and show that calculating statistics from tree sequences using this general framework is several orders of magnitude more efficient than optimized matrix-based methods in terms of both run time and memory requirements. We also explore how well the duality between site and branch statistics holds in practice on trees inferred from the 1000 Genomes Project data set, and discuss ways in which deviations may encode interesting biological signals.

scholarly journals BisPin and BFAST-Gap: Mapping Bisulfite-Treated Reads

2018 ◽  
Author(s):  
Jacob Porter ◽  
Liqing Zhang
Keyword(s):  
Area Under The Curve ◽  
Simulated Data ◽  
Real Data ◽  
Logistic Function ◽  
Ion Torrent ◽  
Read Mapping ◽  
Data Set ◽  
Mapping Software ◽  
Ion Torrent Sequencing ◽  
Construction Strategies

AbstractBackgroundBisPin is a new multiprocess bisulfite-treated short DNA read mapper written in Python 2.7. It performs alignments using BFAST, leveraging its multithreading functionality and thorough hash-based indexing strategy. BisPin is feature rich and supports directional, nondirectional, PBAT, and hairpin construction strategies. BisPin approaches read mapping by converting the Cs to Ts and the Gs to As in both the reads and the reference genome. BisPin uses fast rescoring to disambiguate ambiguously aligned reads for a superior amount of uniquely mapped reads compared to other mappers. The performance of BisPin was evaluated on both real and simulated data in comparison to other read mappers.BFAST-Gap is a modified version of BFAST meant for Ion Torrent reads. It uses a parameterized logistic function to determine the weights of the gap open and extension penalties based on the homopolymer run length of the DNA read. This is because the Ion Torrent sequencing technology can overcall and undercall homopolymer runs. BisPin works with both BFAST-Gap and BFAST. BFAST-Gap is compatible with indexes built with BFAST. There are few mappers that specifically address Ion Torrent data. BFAST-Gap works with Illumina reads as well.ResultsBisPin with BFAST consistently had a higher amount of uniquely mapped reads compared to other mappers on real data using a variety of construction strategies. Using a hairpin validation strategy, BisPin was superior using the maximum score, and it mapped 73% of reads correctly.BisPin with BFAST-Gap on Ion Torrent reads with a logistic gap open penalty function improved mapping accuracy with real and simulated data. On simulated bisulfite Ion Torrent data, the area under the curve was improved by approximately seven, and on one real data set, the uniquely mapped percent was improved by seven percent. BFAST-Gap performed better than TMAP on simulated regular Ion Torrent reads, and TMAP is designed for Ion Torrent reads. Other read mappers had worse performance.ConclusionsBisPin and BFAST-Gap have consistently good accuracy with a variety of data. BisPin is feature-rich. This makes BisPin and BFAST-Gap useful additions to read mapping software.

scholarly journals Effects of management decisions on genetic evaluation of simulated calving records using random regression

2021 ◽  
Author(s):  
M D MacNeil ◽  
J W Buchanan ◽  
M L Spangler ◽  
E Hay
Keyword(s):  
Reproductive Success ◽  
Simulated Data ◽  
Genetic Evaluation ◽  
Random Regression ◽  
Management Decisions ◽  
Third Order ◽  
Data Set ◽  
Binary Phenotype ◽  
Random Regression Model ◽  
Missing Observation

Abstract The objective of this study was to evaluate the effects of various data structures on the genetic evaluation for the binary phenotype of reproductive success. The data were simulated based on an existing pedigree and an underlying fertility phenotype with a heritability of 0.10. A data set of complete observations was generated for all cows. This data set was then modified mimicking the culling of cows when they first failed to reproduce, cows having a missing observation at either their second or fifth opportunity to reproduce as if they had been selected as donors for embryo transfer, and censoring records following the sixth opportunity to reproduce as in a cull-for-age strategy. The data were analyzed using a third order polynomial random regression model. The EBV of interest for each animal was the sum of the age-specific EBV over the first 10 observations (reproductive success at ages 2-11). Thus, the EBV might be interpreted as the genetic expectation of number of calves produced when a female is given ten opportunities to calve. Culling open cows resulted in the EBV for 3 year-old cows being reduced from 8.27 ± 0.03 when open cows were retained to 7.60 ± 0.02 when they were culled. The magnitude of this effect decreased as cows grew older when they first failed to reproduce and were subsequently culled. Cows that did not fail over the 11 years of simulated data had an EBV of 9.43 ± 0.01 and 9.35 ± 0.01 based on analyses of the complete data and the data in which cows that failed to reproduce were culled, respectively. Cows that had a missing observation for their second record had a significantly reduced EBV, but the corresponding effect at the fifth record was negligible. The current study illustrates that culling and management decisions, and particularly those that impact the beginning of the trajectory of sustained reproductive success, can influence both the magnitude and accuracy of resulting EBV.

scholarly journals A Traveler’s Guide to the Multiverse: Promises, Pitfalls, and a Framework for the Evaluation of Analytic Decisions

2021 ◽  
Vol 4 (1) ◽  
pp. 251524592095492
Author(s):  
Marco Del Giudice ◽  
Steven W. Gangestad
Keyword(s):  
Degrees Of Freedom ◽  
A Priori ◽  
Simulated Data ◽  
Style Analysis ◽  
Data Set ◽  
Scant Attention ◽  
Equivalence Type ◽  
The Impact ◽  
Biased Estimates

Decisions made by researchers while analyzing data (e.g., how to measure variables, how to handle outliers) are sometimes arbitrary, without an objective justification for choosing one alternative over another. Multiverse-style methods (e.g., specification curve, vibration of effects) estimate an effect across an entire set of possible specifications to expose the impact of hidden degrees of freedom and/or obtain robust, less biased estimates of the effect of interest. However, if specifications are not truly arbitrary, multiverse-style analyses can produce misleading results, potentially hiding meaningful effects within a mass of poorly justified alternatives. So far, a key question has received scant attention: How does one decide whether alternatives are arbitrary? We offer a framework and conceptual tools for doing so. We discuss three kinds of a priori nonequivalence among alternatives—measurement nonequivalence, effect nonequivalence, and power/precision nonequivalence. The criteria we review lead to three decision scenarios: Type E decisions (principled equivalence), Type N decisions (principled nonequivalence), and Type U decisions (uncertainty). In uncertain scenarios, multiverse-style analysis should be conducted in a deliberately exploratory fashion. The framework is discussed with reference to published examples and illustrated with the help of a simulated data set. Our framework will help researchers reap the benefits of multiverse-style methods while avoiding their pitfalls.

Messages of Oscillatory Correlograms: A Spike Train Model

2008 ◽  
Vol 20 (5) ◽  
pp. 1211-1238 ◽  
Author(s):  
Gaby Schneider
Keyword(s):  
Spike Train ◽  
Null Model ◽  
Simulated Data ◽  
Joint Analysis ◽  
Data Set ◽  
Proposed Model ◽  
Peak Asymmetry ◽  
Millisecond Range ◽  
Temporal Interactions ◽  
Underlying Processes

Oscillatory correlograms are widely used to study neuronal activity that shows a joint periodic rhythm. In most cases, the statistical analysis of cross-correlation histograms (CCH) features is based on the null model of independent processes, and the resulting conclusions about the underlying processes remain qualitative. Therefore, we propose a spike train model for synchronous oscillatory firing activity that directly links characteristics of the CCH to parameters of the underlying processes. The model focuses particularly on asymmetric central peaks, which differ in slope and width on the two sides. Asymmetric peaks can be associated with phase offsets in the (sub-) millisecond range. These spatiotemporal firing patterns can be highly consistent across units yet invisible in the underlying processes. The proposed model includes a single temporal parameter that accounts for this peak asymmetry. The model provides approaches for the analysis of oscillatory correlograms, taking into account dependencies and nonstationarities in the underlying processes. In particular, the auto- and the cross-correlogram can be investigated in a joint analysis because they depend on the same spike train parameters. Particular temporal interactions such as the degree to which different units synchronize in a common oscillatory rhythm can also be investigated. The analysis is demonstrated by application to a simulated data set.

scholarly journals A Bayesian model for binary Markov chains

2004 ◽  
Vol 2004 (8) ◽  
pp. 421-429 ◽  
Author(s):  
Souad Assoudou ◽  
Belkheir Essebbar
Keyword(s):  
Monte Carlo ◽  
Markov Chain ◽  
Markov Chains ◽  
Bayesian Estimation ◽  
Bayesian Model ◽  
Transition Probabilities ◽  
Simulated Data ◽  
Bayesian Estimator ◽  
Jeffreys Prior ◽  
Data Set

This note is concerned with Bayesian estimation of the transition probabilities of a binary Markov chain observed from heterogeneous individuals. The model is founded on the Jeffreys' prior which allows for transition probabilities to be correlated. The Bayesian estimator is approximated by means of Monte Carlo Markov chain (MCMC) techniques. The performance of the Bayesian estimates is illustrated by analyzing a small simulated data set.

scholarly journals Cancer classification and biomarker selection via a penalized logsum network-based logistic regression model

2021 ◽  
Vol 29 ◽  
pp. 287-295
Author(s):  
Zhiming Zhou ◽  
Haihui Huang ◽  
Yong Liang
Keyword(s):  
Logistic Regression ◽  
Regression Model ◽  
Logistic Regression Model ◽  
Gene Selection ◽  
Simulated Data ◽  
Biological Data ◽  
Cancer Classification ◽  
High Dimensional ◽  
Data Set ◽  
Biomarker Selection

BACKGROUND: In genome research, it is particularly important to identify molecular biomarkers or signaling pathways related to phenotypes. Logistic regression model is a powerful discrimination method that can offer a clear statistical explanation and obtain the classification probability of classification label information. However, it is unable to fulfill biomarker selection. OBJECTIVE: The aim of this paper is to give the model efficient gene selection capability. METHODS: In this paper, we propose a new penalized logsum network-based regularization logistic regression model for gene selection and cancer classification. RESULTS: Experimental results on simulated data sets show that our method is effective in the analysis of high-dimensional data. For a large data set, the proposed method has achieved 89.66% (training) and 90.02% (testing) AUC performances, which are, on average, 5.17% (training) and 4.49% (testing) better than mainstream methods. CONCLUSIONS: The proposed method can be considered a promising tool for gene selection and cancer classification of high-dimensional biological data.

scholarly journals Construction of a Genetic Linkage Map in Tetraploid Species Using Molecular Markers

Genetics ◽  
2001 ◽  
Vol 157 (3) ◽  
pp. 1369-1385 ◽  
Author(s):  
Z W Luo ◽  
C A Hackett ◽  
J E Bradshaw ◽  
J W McNicol ◽  
D Milbourne
Keyword(s):  
Molecular Markers ◽  
Linkage Map ◽  
Recombination Frequency ◽  
Simulated Data ◽  
Likelihood Estimation ◽  
Lod Score ◽  
Data Set ◽  
Independent Segregation ◽  
The Em Algorithm ◽  
Small Set

Abstract This article presents methodology for the construction of a linkage map in an autotetraploid species, using either codominant or dominant molecular markers scored on two parents and their full-sib progeny. The steps of the analysis are as follows: identification of parental genotypes from the parental and offspring phenotypes; testing for independent segregation of markers; partition of markers into linkage groups using cluster analysis; maximum-likelihood estimation of the phase, recombination frequency, and LOD score for all pairs of markers in the same linkage group using the EM algorithm; ordering the markers and estimating distances between them; and reconstructing their linkage phases. The information from different marker configurations about the recombination frequency is examined and found to vary considerably, depending on the number of different alleles, the number of alleles shared by the parents, and the phase of the markers. The methods are applied to a simulated data set and to a small set of SSR and AFLP markers scored in a full-sib population of tetraploid potato.

Utilizarea teoriei valorilor extreme în climatologie

2019 ◽  
Author(s):  
Valentin Raileanu ◽  
Keyword(s):  
Maximum Likelihood ◽  
Extreme Values ◽  
Probability Distributions ◽  
Simulated Data ◽  
Likelihood Estimation ◽  
R Software ◽  
Data Set ◽  
Data Format ◽  
Generalized Pareto ◽  
Distribution Parameters

The article briefly describes the history and fields of application of the theory of extreme values, including climatology. The data format, the Generalized Extreme Value (GEV) probability distributions with Bock Maxima, the Generalized Pareto (GP) distributions with Point of Threshold (POT) and the analysis methods are presented. Estimating the distribution parameters is done using the Maximum Likelihood Estimation (MLE) method. Free R software installation, the minimum set of required commands and the GUI in2extRemes graphical package are described. As an example, the results of the GEV analysis of a simulated data set in in2extRemes are presented.

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