---
title: "Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy"
id: "8534"
type: "study"
slug: "sa000075"
published_at: "2025-10-27T17:48:01+00:00"
modified_at: "2026-03-26T16:43:03+00:00"
url: "https://dss.niagads.org/studies/sa000075/"
markdown_url: "https://dss.niagads.org/studies/sa000075.md"
excerpt: "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,..."
---

## 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).

## PI

Michael Miller  
 *Brigham and Women’s Hospital*

## Associated Datasets

- [NG00183 - Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy](https://dss.niagads.org/datasets/ng00183/) 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,… [Learn more](https://dss.niagads.org/datasets/ng00183/)

## Associated Sample Sets

- [snd10128 - Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy](https://dss.niagads.org/sample-sets/snd10128/) 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,… [Learn more](https://dss.niagads.org/sample-sets/snd10128/)

## Cohorts

- [NIH Neurobiobank/University of Maryland (UMB-BTB)](https://dss.niagads.org/cohorts/nih-neurobiobank-university-of-maryland/) The National Institutes of Health have established and funded a network of six Brain and Tissue Banks referred to as the NIH NeuroBioBank. Each of the banks collects and distributes… [Learn more](https://dss.niagads.org/cohorts/nih-neurobiobank-university-of-maryland/)
- [UNITE - Understanding Neurologic Injury and Traumatic Encephalopathy Brain Bank (BU-CTE Center)](https://dss.niagads.org/cohorts/understanding-neurologic-injury-and-traumatic-encephalopathy-brain-bank-bu-cte-center/) Understanding Neurologic Injury and Traumatic Encephalopathy (UNITE) Brain Bank is the largest tissue repository in the world focused on traumatic brain injury and chronic traumatic encephalopathy (CTE). It collects central… [Learn more](https://dss.niagads.org/cohorts/understanding-neurologic-injury-and-traumatic-encephalopathy-brain-bank-bu-cte-center/)

## Grants

K08 AG065502, DP2 AG086138

## Acknowledgement

### Acknowledgment statement for any data distributed by NIAGADS:

Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer's Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.

### For investigators using Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy data:

This work was supported by the National Institute on Aging (R01 AG082346, R01 AG088082, R01 AG070921, K08 AG065502, DP2 AG086138) and the Doris Duke Charitable Foundation Clinical Scientist Development Award (2021183), as part of Dong et al., “Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy.”

## Publications

- Dong G. **Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy.***Science (New York, N.Y.). 2025 Oct 30.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/41166474/)