altAFplotter: a web app for reliable UPD detection in NGS diagnostics
We believe the app to be a great benefit for research and diagnostic labs, which struggle identifying and interpreting UPDs in their NGS diagnostic setup. The information provided allows a quick interpretation of the results and thus is suitable for usage in a high throughput manner by clinicians and biologists.
Authors
- Maximilian Radtke (ORCID: https://orcid.org/0000-0003-0150-9709)
- Isabell Schumann (ORCID: https://orcid.org/0000-0001-8354-2523)
- Julia Hentschel (ORCID: https://orcid.org/0000-0002-5706-1424)
- Johanna Moch
Institutions
- University of Münster (DE)
- Leipzig University (DE)
Publication Details
- Journal
- BMC Bioinformatics
- Published
- 2024-09-12
- DOI
- https://doi.org/10.1186/s12859-024-05922-3
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Universität Leipzig