Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been established at large scale.
Outside traditional drug development pathways, clinicians and scientists face the challenge of systematically evaluating whether individual patients with severe ultrarare diseases might be eligible for and potentially benefit from individualized mutation-specific RNA therapies.
PROTRIDER is a method for detecting aberrant protein expression from mass spectrometry data that outperforms existing approaches and identifies enrichments of pathogenic variants, supporting its application in rare disease diagnostics and cancer proteomics.
Altogether, we established a benchmark dataset for aberrant gene underexpression prediction in 49 human tissues, addressing an unmet need in the area of high-impact variant effect prediction.
