<i>UPDhmm</i> : detecting uniparental disomy from NGS trio data
UPDhmm is implemented in R and is available in the Bioconductor package (version 1.5.0): https://www.bioconductor.org/packages/release/bioc/html/UPDhmm.html. The source code can be found at https://github.com/martasevilla/UPDhmm under the MIT license.
Authors
- Carlos Ruiz-Arenas (ORCID: https://orcid.org/0000-0002-6014-3498)
- Marta Sevilla-Porras (ORCID: https://orcid.org/0009-0005-0179-920X)
- Luis Perez-Jurado
Institutions
- Universitat Pompeu Fabra (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Navarre Institute of Health Research (ES)
- Hospital Del Mar (ES)
- Universidad de Navarra (ES)
Publication Details
- Journal
- Bioinformatics
- Published
- 2026-02-28
- DOI
- https://doi.org/10.1093/bioinformatics/btag062
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00