Diane A. Flasch

This study analyzes structural variants in 1,616 pediatric cancer genomes, revealing unique SV hotspots and patterns distinct from adult cancers.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.