# -------------------------------------------- # CITATION file created with {cffr} R package # See also: https://docs.ropensci.org/cffr/ # -------------------------------------------- cff-version: 1.2.0 message: 'To cite package "UPDhmm" in publications use:' type: software license: MIT title: 'UPDhmm: Detecting Uniparental Disomy through NGS trio data' version: 1.1.0 abstract: Uniparental disomy (UPD) is a genetic condition where an individual inherits both copies of a chromosome or part of it from one parent, rather than one copy from each parent. This package contains a HMM for detecting UPDs through HTS (High Throughput Sequencing) data from trio assays. By analyzing the genotypes in the trio, the model infers a hidden state (normal, father isodisomy, mother isodisomy, father heterodisomy and mother heterodisomy). authors: - family-names: Sevilla given-names: Marta email: marta.sevilla@upf.edu orcid: https://orcid.org/0009-0005-0179-920X - family-names: Ruiz-Arenas given-names: Carlos email: cruizarenas@unav.es orcid: https://orcid.org/0000-0002-6014-3498 repository: https://bioc.r-universe.dev repository-code: https://github.com/martasevilla/UPDhmm url: https://github.com/martasevilla/UPDhmm contact: - family-names: Sevilla given-names: Marta email: marta.sevilla@upf.edu orcid: https://orcid.org/0009-0005-0179-920X