Article
Population-scale repeat expansions elucidate disease risk and brain atrophy.
Nature - 1 May 2026
Pounraja Vijay Kumar, Sul Jae Hoon, Herman Joseph, O'Keeffe Sean, Rajagopal Veera, Bai Xiaodong, Kessler Michael D, Parikshak Neelroop, Landheer Karl, Zhang Xingmin, Yu Sean, Zhang Lance, LeBlanc Michelle G, Rico-Varela Jennifer, Grau Frederic, Wolf Sarah, Sundaramoorthy Sriramkumar, Sepehrband Farshid, Stahl Eli A, Huo Yuda, Ahmed Mohsin, Croll Susan, Salerno William, Overton John D, Marchini Jonathan, Reid Jeffrey, Lotta Luca A, Baras Aris, Abecasis Goncalo R, Coppola Giovanni, Gelfman Sahar
Abstract excerpt
Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological diseases1-3. Here we performed a population-scale survey of pathogenic repeat expansions by analysing repeat length in 37 disease-associated STR loci in a diverse set of 1,020,833 samples using short-read sequencing whole-exome and whole-genome data. Consistent with previous findings, we found that the frequency of pathogenic repeats...
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