James Fitch

The paper identifies somatic and germline genetic variations in brain tissue from children with epilepsy-associated developmental lesions, highlighting new candidate genes and structural variations.

The paper develops an ensemble fusion-calling pipeline to improve the detection of clinically relevant gene fusions in pediatric cancer, identifying 67 fusions with a 29.3% diagnostic yield.

This study investigates the chromatin-binding properties of the oncogenic PAX3-FOXO1 fusion protein using pc-ChIP-seq, revealing its pioneer function at repressed chromatin in RMS cells.

The paper analyzes mRNA folding disruptions caused by synonymous variants and finds population-level constraints, introducing a Structural Predictivity Index to assess pathogenic potential.

Samovar calls mosaic SNVs in single samples using linked-read data with accuracy comparable to trio or tumor/normal pair analyses.

This study shows HOTAIR supports Ewing sarcoma tumor growth by altering epigenetic regulation through interaction with LSD1, enabling cell survival despite EWS-FLI1 toxicity.