Manuel Holtgrewe

Kiosc simplifies managing containerized web apps for bioinformatics analysis, enabling interactive result visualization and sharing across projects and institutions.

mehari predicts variant effects with a strict HGVS-first approach, achieving high speed and accuracy compared to existing tools.

Svirlpool detects structural variants from ONT data using local consensus assemblies, achieving high Mendelian consistency and outperforming existing methods in certain metrics.

This study finds that paternal exposure to ionizing radiation increases clustered de novo mutations in offspring, suggesting cDNMs as a transgenerational biomarker.

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

SODAR is a software package that manages multi-omics study data and metadata using a web interface and APIs, supporting the ISA-Tab format and iRODS storage.

The paper identifies HLA-C* 04:01 as a genetic risk allele associated with increased intubation risk in severe COVID-19 cases, validated across multiple cohorts.

The paper introduces LIRICAL, a likelihood ratio-based framework for genomic diagnostics that improves accuracy and interpretability in phenotype-driven rare disease diagnosis.

SCelVis provides a flexible, user-friendly tool for visualizing and analyzing single-cell data on desktop and cloud platforms.

VarFish is a web application for variant analysis in rare disease genetics, offering quality control, filtering, annotation, and collaboration tools for diagnostic and research use.

The paper identifies and ranks recurrent neo-epitopes in cancer using TCGA data and MHC class I binding prediction to prioritize candidates for immunotherapy.

Bioconda provides a sustainable, comprehensive distribution of bioinformatics software using Conda for reproducible analysis across platforms.

HLA-MA matches samples using HLA typing results from HTS data, providing reliable re-identification even with high mutational loads.