Jonathan Pevsner

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

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.

R2OM2 creates fluorescent optical methylation profiles along chromosomal DNA for epigenetic profiling, comparable to WGBS with single-molecule resolution.

The paper introduces R2OM2, a method combining optical methylation profiling with genome mapping to analyze epigenetic variation in single cells and large structural aberrations.