A genome-wide spectrum of tandem repeat expansions in 338,963 humans

Ya Cui, Wenbin Ye, Jason Sheng Li, Jingyi Jessica Li, Eric Vilain, Tamer Sallam, Wei Li, A genome-wide spectrum of tandem repeat expansions in 338,963 humans, Cell, Volume 187, Issue 9, 2024, Pages 2336-2341.e5, doi:10.1016/j.cell.2024.03.004. 

Similarly, the prevalence of expanded GAA TR units in FXN, linked to Friedreich ataxia (FRDA), is less prevalent in East Asian samples than in other ancestries (Figure S1B). This observation again mirrors the low frequency of reported cases of FRDA in Japan.

A genome-wide spectrum of tandem repeat expansions in 338,963 humans