Holly C. Beale

The paper provides a uniformly processed compendium of alternative splicing profiles from pediatric cancer and non-diseased tissues, enabling large-scale analysis of splicing aberrations in pediatric cancers.

The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.

The paper evaluates the CARE pipeline for identifying druggable targets in pediatric cancers using RNA-Seq data from 33 patients, showing 94% of cases had clinically significant findings.

The paper evaluates the informativeness of reads in bulk RNA-Seq datasets and recommends using MEND reads for accurate gene expression quantification in pediatric cancer studies.

This paper introduces a Bayesian framework to detect gene expression outliers in single samples by creating a consensus background distribution without requiring a manual comparison set.