Marloes Steehouwer

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

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

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

This study identifies associations between rare and common genetic variants in the IL-1 pathway and cytokine responses to various stimuli in healthy individuals.

The paper shows that in individuals with obesity, mutation-driven haematopoietic clones grow faster with insulin resistance and low HDL-C, which are cardiovascular risk factors.

This study validates whole genome sequencing as a reliable single assay for detecting various cancer mutations with high sensitivity and precision.

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.