Author

Johanna Moch

Leipzig University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Bioinformatics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

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Isabell SchumanniD· 1 shared Julia HentscheliD· 1 shared Maximilian RadtkeiD· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperBioinformatics

Isabell SchumannORCID

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1 paper

Recent·Most cited

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

Maximilian Radtke, Johanna Moch, Julia Hentschel, Isabell Schumann

altAFplotter detects uniparental disomies in NGS data by analyzing runs of homozygosity and variant inheritance ratios, providing a web tool for reliable UPD analysis.

BMC Bioinformatics · Sep 12, 2024Peer-reviewedBioinformatics