pedtools - Creating and Working with Pedigrees and Marker Data

A comprehensive collection of tools for creating, manipulating and visualising pedigrees and genetic marker data. Pedigrees can be read from text files or created on the fly with built-in functions. A range of utilities enable modifications like adding or removing individuals, breaking loops, and merging pedigrees. An online tool for creating pedigrees interactively, based on 'pedtools', is available at <https://magnusdv.shinyapps.io/quickped>. 'pedtools' is the hub of the 'pedsuite', a collection of packages for pedigree analysis. A detailed presentation of the 'pedsuite' is given in the book 'Pedigree Analysis in R' (Vigeland, 2021, ISBN:9780128244302).

Last updated 15 days ago

8.72 score 25 stars 18 dependents 60 scripts 851 downloads

forrel - Forensic Pedigree Analysis and Relatedness Inference

Forensic applications of pedigree analysis, including likelihood ratios for relationship testing, general relatedness inference, marker simulation, and power analysis. 'forrel' is part of the 'pedsuite', a collection of packages for pedigree analysis, further described in the book 'Pedigree Analysis in R' (Vigeland, 2021, ISBN:9780128244302). Several functions deal specifically with power analysis in missing person cases, implementing methods described in Vigeland et al. (2020) <doi:10.1016/j.fsigen.2020.102376>. Data import from the 'Familias' software (Egeland et al. (2000) <doi:10.1016/S0379-0738(00)00147-X>) is supported through the 'pedFamilias' package.

Last updated 21 days ago

6.98 score 11 stars 7 dependents 63 scripts 641 downloads

pedsuite - Easy Installation of the 'pedsuite' Packages for Pedigree Analysis

The 'pedsuite' is a collection of packages for pedigree analysis, covering applications in forensic genetics, medical genetics and more. A detailed presentation of the 'pedsuite' is given in the book 'Pedigree Analysis in R' (Vigeland, 2021, ISBN: 9780128244302).

Last updated 5 months ago

6.02 score 13 stars 23 scripts 257 downloads

ribd - Pedigree-based Relatedness Coefficients

Recursive algorithms for computing various relatedness coefficients, including pairwise kinship, kappa and identity coefficients. Both autosomal and X-linked coefficients are computed. Founders are allowed to be inbred, which enables construction of any given kappa coefficients, as described in Vigeland (2020) <doi:10.1007/s00285-020-01505-x>. In addition to the standard coefficients, 'ribd' also computes a range of lesser-known coefficients, including generalised kinship coefficients, multi-person coefficients and two-locus coefficients (Vigeland, 2023, <doi:10.1093/g3journal/jkac326>). Many features of 'ribd' are available through the online app 'QuickPed' at <https://magnusdv.shinyapps.io/quickped>; see Vigeland (2022) <doi:10.1186/s12859-022-04759-y>.

Last updated 15 days ago

inbreeding-coefficientkinshippedigree-analysisrelatedness

5.95 score 6 stars 11 dependents 10 scripts 630 downloads

pedprobr - Probability Computations on Pedigrees

An implementation of the Elston-Stewart algorithm for calculating pedigree likelihoods given genetic marker data (Elston and Stewart (1971) <doi:10.1159/000152448>). The standard algorithm is extended to allow inbred founders. 'pedprobr' is part of the 'pedsuite', a collection of packages for pedigree analysis in R. In particular, 'pedprobr' depends on 'pedtools' for pedigree manipulations and 'pedmut' for mutation modelling. For more information, see 'Pedigree Analysis in R' (Vigeland, 2021, ISBN:9780128244302).

Last updated 14 days ago

5.90 score 4 stars 11 dependents 6 scripts 477 downloads

pedmut - Mutation Models for Pedigree Likelihood Computations

A collection of functions for modelling mutations in pedigrees with marker data, as used e.g. in likelihood computations with microsatellite data. Implemented models include equal, proportional and stepwise models, as well as random models for experimental work, and custom models allowing the user to apply any valid mutation matrix. Allele lumping is done following the lumpability criteria of Kemeny and Snell (1976), ISBN:0387901922.

Last updated 22 hours ago

5.03 score 2 stars 18 dependents 5 scripts 591 downloads

dvir - Disaster Victim Identification

Joint DNA-based disaster victim identification (DVI), as described in Vigeland and Egeland (2021) <doi:10.21203/rs.3.rs-296414/v1>. Identification is performed by optimising the joint likelihood of all victim samples and reference individuals. Individual identification probabilities, conditional on all available information, are derived from the joint solution in the form of posterior pairing probabilities. 'dvir' is part of the 'pedsuite' collection of packages for pedigree analysis.

Last updated 3 months ago

dviforensic-genetics

5.02 score 3 stars 1 dependents 21 scripts 326 downloads

ibdsim2 - Simulation of Chromosomal Regions Shared by Family Members

Simulation of segments shared identical-by-descent (IBD) by pedigree members. Using sex specific recombination rates along the human genome (Halldorsson et al. (2019) <doi:10.1126/science.aau1043>), phased chromosomes are simulated for all pedigree members. Applications include calculation of realised relatedness coefficients and IBD segment distributions. 'ibdsim2' is part of the 'pedsuite' collection of packages for pedigree analysis. A detailed presentation of the 'pedsuite', including a separate chapter on 'ibdsim2', is available in the book 'Pedigree analysis in R' (Vigeland, 2021, ISBN:9780128244302). A 'Shiny' app for visualising and comparing IBD distributions is available at <https://magnusdv.shinyapps.io/ibdsim2-shiny/>.

Last updated 30 days ago

identity-by-descentrelatednesssimulationcpp

5.00 score 5 stars 1 dependents 19 scripts 483 downloads

verbalisr - Describe Pedigree Relationships in Words

Describe in words the genealogical relationship between two members of a given pedigree, using the algorithm in Vigeland (2022) <doi:10.1186/s12859-022-04759-y>. 'verbalisr' is part of the 'pedsuite' collection of packages for pedigree analysis. For a demonstration of 'verbalisr', see the online app 'QuickPed' at <https://magnusdv.shinyapps.io/quickped>.

Last updated 18 days ago

pedigree-analysisrelatednessrelationship-detection

4.92 score 1 stars 8 dependents 7 scripts 482 downloads

pedFamilias - Import and Export 'Familias' Files

Tools for exchanging pedigree data between the 'pedsuite' packages and the 'Familias' software for forensic kinship computations (Egeland et al. (2000) <doi:10.1016/s0379-0738(00)00147-x>). These functions were split out from the 'forrel' package to streamline maintenance and provide a lightweight alternative for packages otherwise independent of 'forrel'.

Last updated 7 months ago

familiaskinship-testingpedsuite

4.56 score 2 stars 6 dependents 5 scripts 294 downloads

segregatr - Segregation Analysis for Variant Interpretation

An implementation of the full-likelihood Bayes factor (FLB) for evaluating segregation evidence in clinical medical genetics. The method was introduced by Thompson et al. (2003) <doi:10.1086/378100>. This implementation supports custom penetrance values and liability classes, and allows visualisations and robustness analysis as presented in Ratajska et al. (2023) <doi:10.1002/mgg3.2107>. See also the online app 'shinyseg', <https://chrcarrizosa.shinyapps.io/shinyseg>, which offers interactive segregation analysis with many additional features (Carrizosa et al. (2024) <doi:10.1093/bioinformatics/btae201>).

Last updated 9 months ago

4.03 score 3 stars 1 dependents 12 scripts 202 downloads

KLINK - Kinship Analysis with Linked Markers

A 'shiny' application for forensic kinship testing, based on the 'pedsuite' R packages. 'KLINK' is closely aligned with the (non-R) software 'Familias' and 'FamLink', but offers several unique features, including visualisations and automated report generation. The calculation of likelihood ratios supports pairs of linked markers, and all common mutation models.

Last updated 22 days ago

forensic-geneticskinship-testingpedsuiteshiny

3.88 score 1 stars 5 scripts 248 downloads

pedbuildr - Pedigree Reconstruction

Reconstruct pedigrees from genotype data, by optimising the likelihood over all possible pedigrees subject to given restrictions. Tailor-made plots facilitate evaluation of the output. This package is part of the 'pedsuite' ecosystem for pedigree analysis. In particular, it imports 'pedprobr' for calculating pedigree likelihoods and 'forrel' for estimating pairwise relatedness.

Last updated 2 months ago

3.78 score 2 stars 1 dependents 7 scripts 199 downloads

paramlink2 - Parametric Linkage Analysis

Parametric linkage analysis of monogenic traits in medical pedigrees. Features include singlepoint analysis, multipoint analysis via 'MERLIN' (Abecasis et al. (2002) <doi:10.1038/ng786>), visualisation of log of the odds (LOD) scores and summaries of linkage peaks. Disease models may be specified to accommodate phenocopies, reduced penetrance and liability classes. 'paramlink2' is part of the 'pedsuite' package ecosystem, presented in 'Pedigree Analysis in R' (Vigeland, 2021, ISBN:9780128244302).

Last updated 7 months ago

3.65 score 3 stars 1 dependents 5 scripts 278 downloads

paramlink - Parametric Linkage and Other Pedigree Analysis in R

NOTE: 'PARAMLINK' HAS BEEN SUPERSEDED BY THE 'PED SUITE' PACKAGES (<https://magnusdv.github.io/pedsuite/>). 'PARAMLINK' IS MAINTAINED ONLY FOR LEGACY PURPOSES AND SHOULD NOT BE USED IN NEW PROJECTS. A suite of tools for analysing pedigrees with marker data, including parametric linkage analysis, forensic computations, relatedness analysis and marker simulations. The core of the package is an implementation of the Elston-Stewart algorithm for pedigree likelihoods, extended to allow mutations as well as complex inbreeding. Features for linkage analysis include singlepoint LOD scores, power analysis, and multipoint analysis (the latter through a wrapper to the 'MERLIN' software). Forensic applications include exclusion probabilities, genotype distributions and conditional simulations. Data from the 'Familias' software can be imported and analysed in 'paramlink'. Finally, 'paramlink' offers many utility functions for creating, manipulating and plotting pedigrees with or without marker data (the actual plotting is done by the 'kinship2' package).

Last updated 3 years ago

3.39 score 1 stars 49 scripts 386 downloads