altAFplotter: a web app for reliable UPD detection in NGS diagnostics
Abstract Background The detection of uniparental disomies (the inheritance of both chromosome homologues from a single parent, UPDs) is not part of most standard or commercial NGS-pipelines in human genetics and thus a common gap in NGS diagnostics. To address this we developed a tool for UPD-detect...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2024-09-01
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| Col·lecció: | BMC Bioinformatics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s12859-024-05922-3 |
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