scholarly journals skater: an R package for SNP-based kinship analysis, testing, and evaluation

F1000Research ◽  
2022 ◽  
Vol 11 ◽  
pp. 18
Author(s):  
Stephen D. Turner ◽  
V.P. Nagraj ◽  
Matthew Scholz ◽  
Shakeel Jessa ◽  
Carlos Acevedo ◽  
...  
Keyword(s):  
Software Package ◽  
R Package ◽  
Downstream Process ◽  
Pedigree Data ◽  
Kinship Analysis ◽  
Analysis Methods ◽  
Genome Wide ◽  
Degree Classification ◽  
Segment Data ◽  
Testing And Evaluation

Motivation: SNP-based kinship analysis with genome-wide relationship estimation and IBD segment analysis methods produces results that often require further downstream process- ing and manipulation. A dedicated software package that consistently and intuitively imple- ments this analysis functionality is needed. Results: Here we present the skater R package for SNP-based kinship analysis, testing, and evaluation with R. The skater package contains a suite of well-documented tools for importing, parsing, and analyzing pedigree data, performing relationship degree inference, benchmarking relationship degree classification, and summarizing IBD segment data. Availability: The skater package is implemented as an R package and is released under the MIT license at https://github.com/signaturescience/skater. Documentation is available at https://signaturescience.github.io/skater.

scholarly journals skater: An R package for SNP-based Kinship Analysis, Testing, and Evaluation

2021 ◽  
Author(s):  
Stephen D. Turner ◽  
V. P. Nagraj ◽  
Matthew Scholz ◽  
Shakeel Jessa ◽  
Carlos Acevedo ◽  
...  
Keyword(s):  
Software Package ◽  
R Package ◽  
Downstream Processing ◽  
Data Availability ◽  
Pedigree Data ◽  
Kinship Analysis ◽  
Genome Wide ◽  
Degree Classification ◽  
Segment Data ◽  
Testing And Evaluation

Motivation: SNP-based kinship analysis with genome-wide relationship estimation and IBD segment analysis methods produces results that often require further downstream processing and manipulation. A dedicated software package that consistently and intuitively implements this analysis functionality is needed. Results: Here we present the skater R package for SNP-based kinship analysis, testing, and evaluation with R. The skater package contains a suite of well-documented tools for importing, parsing, and analyzing pedigree data, performing relationship degree inference, benchmarking relationship degree classification, and summarizing IBD segment data. Availability: The skater package is implemented as an R package and is released under the MIT license at https://github.com/signaturescience/skater. Documentation is available at https://signaturescience.github.io/skater.

EpiPen: An R Package to Investigate Two-Locus Epistatic Models

2014 ◽  
Vol 17 (4) ◽  
Author(s):  
Raymond K. Walters ◽  
Charles Laurin ◽  
Gitta H. Lubke
Keyword(s):  
Power Analysis ◽  
R Package ◽  
Simulation Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Epistatic Interactions ◽  
Model Interpretation ◽  
Genome Wide ◽  
Using Data ◽  
Power Analyses

Epistasis is a growing area of research in genome-wide studies, but the differences between alternative definitions of epistasis remain a source of confusion for many researchers. One problem is that models for epistasis are presented in a number of formats, some of which have difficult-to-interpret parameters. In addition, the relation between the different models is rarely explained. Existing software for testing epistatic interactions between single-nucleotide polymorphisms (SNPs) does not provide the flexibility to compare the available model parameterizations. For that reason we have developed an R package for investigating epistatic and penetrance models, EpiPen, to aid users who wish to easily compare, interpret, and utilize models for two-locus epistatic interactions. EpiPen facilitates research on SNP-SNP interactions by allowing the R user to easily convert between common parametric forms for two-locus interactions, generate data for simulation studies, and perform power analyses for the selected model with a continuous or dichotomous phenotype. The usefulness of the package for model interpretation and power analysis is illustrated using data on rheumatoid arthritis.

scholarly journals Gene set enrichment analysis for genome-wide DNA methylation data

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Jovana Maksimovic ◽  
Alicia Oshlack ◽  
Belinda Phipson
Keyword(s):  
Dna Methylation ◽  
Enrichment Analysis ◽  
R Package ◽  
Gene Set Enrichment Analysis ◽  
Methylation Array ◽  
Gene Set ◽  
Genome Wide ◽  
Genome Methylation ◽  
Unbiased Gene ◽  
Gene Set Testing

AbstractDNA methylation is one of the most commonly studied epigenetic marks, due to its role in disease and development. Illumina methylation arrays have been extensively used to measure methylation across the human genome. Methylation array analysis has primarily focused on preprocessing, normalization, and identification of differentially methylated CpGs and regions. GOmeth and GOregion are new methods for performing unbiased gene set testing following differential methylation analysis. Benchmarking analyses demonstrate GOmeth outperforms other approaches, and GOregion is the first method for gene set testing of differentially methylated regions. Both methods are publicly available in the missMethyl Bioconductor R package.

scholarly journals methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles

2012 ◽  
Vol 13 (10) ◽  
pp. R87 ◽  
Author(s):  
Altuna Akalin ◽  
Matthias Kormaksson ◽  
Sheng Li ◽  
Francine E Garrett-Bakelman ◽  
Maria E Figueroa ◽  
...  
Keyword(s):  
Dna Methylation ◽  
R Package ◽  
Genome Wide

scholarly journals mixIndependR: a R package for statistical independence testing of loci in database of multi-locus genotypes

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Bing Song ◽  
August E. Woerner ◽  
John Planz
Keyword(s):  
Population Genetics ◽  
Linkage Disequilibrium ◽  
Genetic Markers ◽  
Software Package ◽  
Tandem Repeats ◽  
Population Data ◽  
Real Data ◽  
R Package ◽  
Nucleotide Polymorphisms ◽  
Mutual Independence

Abstract Background Multi-locus genotype data are widely used in population genetics and disease studies. In evaluating the utility of multi-locus data, the independence of markers is commonly considered in many genomic assessments. Generally, pairwise non-random associations are tested by linkage disequilibrium; however, the dependence of one panel might be triplet, quartet, or other. Therefore, a compatible and user-friendly software is necessary for testing and assessing the global linkage disequilibrium among mixed genetic data. Results This study describes a software package for testing the mutual independence of mixed genetic datasets. Mutual independence is defined as no non-random associations among all subsets of the tested panel. The new R package “mixIndependR” calculates basic genetic parameters like allele frequency, genotype frequency, heterozygosity, Hardy–Weinberg equilibrium, and linkage disequilibrium (LD) by mutual independence from population data, regardless of the type of markers, such as simple nucleotide polymorphisms, short tandem repeats, insertions and deletions, and any other genetic markers. A novel method of assessing the dependence of mixed genetic panels is developed in this study and functionally analyzed in the software package. By comparing the observed distribution of two common summary statistics (the number of heterozygous loci [K] and the number of share alleles [X]) with their expected distributions under the assumption of mutual independence, the overall independence is tested. Conclusion The package “mixIndependR” is compatible to all categories of genetic markers and detects the overall non-random associations. Compared to pairwise disequilibrium, the approach described herein tends to have higher power, especially when number of markers is large. With this package, more multi-functional or stronger genetic panels can be developed, like mixed panels with different kinds of markers. In population genetics, the package “mixIndependR” makes it possible to discover more about admixture of populations, natural selection, genetic drift, and population demographics, as a more powerful method of detecting LD. Moreover, this new approach can optimize variants selection in disease studies and contribute to panel combination for treatments in multimorbidity. Application of this approach in real data is expected in the future, and this might bring a leap in the field of genetic technology. Availability The R package mixIndependR, is available on the Comprehensive R Archive Network (CRAN) at: https://cran.r-project.org/web/packages/mixIndependR/index.html.

scholarly journals Identifying home locations in human mobility data: an open-source R package for comparison and reproducibility

2021 ◽  
Author(s):  
Qingqing Chen ◽  
Ate Poorthuis
Keyword(s):  
Software Package ◽  
Ad Hoc ◽  
Human Mobility ◽  
Building Blocks ◽  
R Package ◽  
Location Based Services ◽  
R Software ◽  
Mobility Data ◽  
Residential Population ◽  
Research Goal

Identifying meaningful locations, such as home or work, from human mobility data has become an increasingly common prerequisite for geographic research. Although location-based services (LBS) and other mobile technology have rapidly grown in recent years, it can be challenging to infer meaningful places from such data, which - compared to conventional datasets – can be devoid of context. Existing approaches are often developed ad-hoc and can lack transparency and reproducibility. To address this, we introduce an R software package for inferring home locations from LBS data. The package implements pre-existing algorithms and provides building blocks to make writing algorithmic ‘recipes’ more convenient. We evaluate this approach by analyzing a de-identified LBS dataset from Singapore that aims to balance ethics and privacy with the research goal of identifying meaningful locations. We show that ensemble approaches, combining multiple algorithms, can be especially valuable in this regard as the resulting patterns of inferred home locations closely correlate with the distribution of residential population. We hope this package, and others like it, will contribute to an increase in use and sharing of comparable algorithms, research code and data. This will increase transparency and reproducibility in mobility analyses and further the ongoing discourse around ethical big data research.

scholarly journals CelltrackR: an R package for fast and flexible analysis of immune cell migration data

2019 ◽  
Author(s):  
Inge M. N. Wortel ◽  
Katharina Dannenberg ◽  
Jeffrey C. Berry ◽  
Mark J. Miller ◽  
Johannes Textor
Keyword(s):  
Cell Migration ◽  
Immune Cell ◽  
Time Lapse ◽  
R Package ◽  
Management Quality ◽  
Analysis Methods ◽  
Migration Dynamics ◽  
Immune Cell Migration ◽  
Imaging Artifacts ◽  
Track Analysis

AbstractSummaryVisualization of cell migration via time-lapse microscopy has greatly advanced our understanding of the immune system. However, subtle differences in migration dynamics are easily obscured by biases and imaging artifacts. While several analysis methods have been suggested to address these issues, an integrated tool implementing them is currently lacking. Here, we present CelltrackR, an R package containing a diverse set of state-of-the-art analysis methods for (immune) cell tracks. CelltrackR supports the complete pipeline for track analysis by providing methods for data management, quality control, extracting and visualizing migration statistics, clustering tracks, and simulating cell migration.Availability and ImplementationCelltrackR is an open-source package released under the GPL-2 license, and is freely available on GitHub at https://github.com/ingewortel/[email protected], [email protected]

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