Tag: RNA-seq

abstract publication image on science health

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

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.
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PROTRIDER: protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder

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.

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