Article

altAFplotter: a web app for reliable UPD detection in NGS diagnostics

2023-08-09

Abstract excerpt

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-detection based on panel, exome or whole genome sequencing data which is easy to use and publicly available. Detection of UPDs and delineation...

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Literature Corpus work: 031ac9a4-691d-5410-ae1f-a13ad1611f3b
DOI: 10.1101/2023.08.08.546838

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