# --------------------------------------------
# CITATION file created with {cffr} R package
# See also: https://docs.ropensci.org/cffr/
# --------------------------------------------
 
cff-version: 1.2.0
message: 'To cite package "segregatr" in publications use:'
type: software
license: GPL-3.0-only
title: 'segregatr: Segregation Analysis for Variant Interpretation'
version: 0.4.0
doi: 10.1002/mgg3.2107
identifiers:
- type: doi
  value: 10.32614/CRAN.package.segregatr
abstract: 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) <https://doi.org/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) <https://doi.org/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) <https://doi.org/10.1093/bioinformatics/btae201>).
authors:
- family-names: Vigeland
  given-names: Magnus Dehli
  email: m.d.vigeland@medisin.uio.no
  orcid: https://orcid.org/0000-0002-9134-4962
- family-names: Carrizosa
  given-names: Christian
  orcid: https://orcid.org/0000-0002-3919-0011
preferred-citation:
  type: article
  title: 'The use of segregation analysis in interpretation of sequence variants in
    SMAD3: A case report'
  authors:
  - family-names: Ratajska
    given-names: Aleksandra
  - family-names: Vigeland
    given-names: Magnus D.
  - family-names: Wirgenes
    given-names: Katrine V.
  - family-names: Krohg-Sørensen
    given-names: Kirsten
  - family-names: Paus
    given-names: Benedicte
  journal: Molecular Genetics & Genomic Medicine
  volume: '11'
  issue: '2'
  year: '2023'
  publisher:
    name: Wiley Online Library
  doi: 10.1002/mgg3.2107
  start: e2107
repository: https://CRAN.R-project.org/package=segregatr
repository-code: https://github.com/magnusdv/segregatr
url: https://github.com/magnusdv/segregatr
date-released: '2024-06-28'
contact:
- family-names: Vigeland
  given-names: Magnus Dehli
  email: m.d.vigeland@medisin.uio.no
  orcid: https://orcid.org/0000-0002-9134-4962