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DESCRIPTION
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DESCRIPTION
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Package: segregatr
Title: Segregation Analysis for Variant Interpretation
Version: 0.4.0
Authors@R: c(
person("Magnus Dehli", "Vigeland", , "[email protected]", role = c("aut", "cre"),
comment = c(ORCID = "0000-0002-9134-4962")),
person("Christian", "Carrizosa", role = "aut",
comment = c(ORCID = "0000-0002-3919-0011"))
)
Description: 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>).
License: GPL-3
URL: https://github.com/magnusdv/segregatr
BugReports: https://github.com/magnusdv/segregatr/issues
Depends:
pedtools (>= 2.2.0),
R (>= 4.1.0)
Imports:
pedprobr
Suggests:
testthat
Encoding: UTF-8
Language: en-GB
Roxygen: list(markdown = TRUE)
RoxygenNote: 7.3.1