Catherine E. Cottrell

Detection of brain somatic variation in epilepsy-associated developmental lesions

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.

Discovery of Clinically Relevant Fusions in Pediatric Cancer

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.

Samovar: Single-sample mosaic SNV calling with linked reads

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