Author

Dominic Lenz

University Hospital HeidelbergORCID 0000-0002-9561-8190Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Agnès RötigiD· 2 shared Akira OhtakeiD· 2 shared Antònia RibesiD· 2 shared Charlotte L. AlstoniD· 2 shared Christian StaufneriD· 2 shared Christine C. MakowskiiD· 2 shared Costanza LampertiiD· 2 shared Daniele GhezziiD· 2 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Agnès RötigORCID

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3 papers

Recent·Most cited

BioinformaticsComputational and Structural Biotechnology JournalPeer-reviewedJan 1, 2023

aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

Julian Schröter, Tal Dattner, Jennifer Hüllein…·Heiko Brennenstuhl

aRgus provides a webtool for visualizing and analyzing non-synonymous variants with pathogenicity scoring to assess genetic vulnerability.

7 citations

humanDNA methylation

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Genetic & Genomic MedicineGenome MedicinePeer-reviewedApr 4, 2022

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich…·Holger Prokisch

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

210 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJun 21, 2021

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk…·Holger Prokisch

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

11 citations

humanwhole-exome sequencing

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