Description

This study characterized somatic mutations in chronic traumatic encephalopathy (CTE) and performed whole-genome sequencing of single neurons isolated from prefrontal cortex (PFC) of postmortem human brain of individuals with CTE, repetitive head impacts but without CTE (RHI), or non-disease control, along with bulk whole-genome sequencing performed on each individual as a reference genome for variant calling. Single neuron genomes were amplified using primary template-directed amplification (PTA) or multiplexed end-tagging amplification of complementary strands (META-CS).

Principal Investigators

  • Michael Miller — Brigham and Women’s Hospital

Funding Sources

K08 AG065502, DP2 AG086138

Publications

  • Dong G. Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy. Science (New York, N.Y.). 2025 Oct 30. PubMed link