Felix Brechtmann

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

Functional gene embeddings improve rare variant polygenic risk scores

FuncRVP improves rare variant polygenic risk scores by integrating functional gene embeddings, enhancing performance for traits with higher heritability.

Integration of variant annotations using deep set networks boosts rare variant association genetics

This paper introduces DeepRVAT, a deep learning model for rare variant association genetics, showing improved gene discovery and risk prediction using whole-exome sequencing data from UK Biobank.

OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data

OUTRIDER detects aberrantly expressed genes in RNA-seq data by modeling co-variation and using significance-based thresholds to identify outliers.