Tag: PROTRIDER

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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.
abstract publication image on science health

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis

A multi-omics approach combining proteomics, transcriptomics, and exome reanalysis improved diagnosis of neurodevelopmental disorders, resolving uncertain variants and increasing diagnostic yield.

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