Ana Töpf

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

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

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.