Tag: rna sequencing

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.
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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