Back

Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy

Dong, G.; Ma, C. C.; Mao, S.; Naik, S. M.; Brown, K. S.-M.; McDonough, G. A.; Kim, J.; Kirkham, S. L.; Cherry, J.; Uretsky, M.; Spurlock, E.; McKee, A.; Huang, A. Y.; Miller, M. B.; Lee, E. A.; Walsh, C. A.

2025-03-04 genomics
10.1101/2025.03.03.641217 bioRxiv
Show abstract

Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease that is linked to exposure to repetitive head impacts (RHI), yet little is known about its pathogenesis. Applying two single-cell whole-genome sequencing methods to hundreds of neurons from prefrontal cortex of 15 individuals with CTE, and 4 with RHI without CTE, revealed increased somatic single-nucleotide variants in CTE, resembling a pattern previously reported in Alzheimers disease (AD). Furthermore, we discovered remarkably high burdens of somatic small insertions and deletions in a subset of CTE individuals, resembling a known pattern, ID4, also found in AD. Our results suggest that neurons in CTE experience stereotyped mutational processes shared with AD; the absence of similar changes in RHI neurons without CTE suggests that CTE involves mechanisms beyond RHI alone.

Published in Science (predicted rank #1) · training set

Matching journals

The top 4 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.