Targeted single-nucleus sequencing of 39,800 neurons reveals extensive low-frequency somatic variants
Vanshika Bidhan, Sarah Wynants, Toon Swings, Cristina T Vicente, Fahri Küçükali, Marleen Van den Broeck, Jeroen van Rooij, Merel O. Mol, Laura Donker Kaat, Safa Al-Sarraj, István Bódi, Andrew King, Claire Troakes, Christos Proukakis, Jolien M. Schaeverbeke, , Rosa Rademakers
The paper analyzes somatic mutations in neurons from FTLD-TDP type C patients and controls, finding extensive low-frequency variants in TARDBP and other genes.
bioRxiv · Sep 23, 2026 · PreprintGenetics