Increased frequency of repeat expansion mutations across different populations.

doi:10.1038/s41591-024-03190-5

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Article

Increased frequency of repeat expansion mutations across different populations.

Nature medicine - 1 Nov 2024

Ibañez Kristina, Jadhav Bharati, Zanovello Matteo, Gagliardi Delia, Clarkson Christopher, Facchini Stefano, Garg Paras, Martin-Trujillo Alejandro, Gies Scott J, Galassi Deforie Valentina, Dalmia Anupriya, Hensman Moss Davina J, Vandrovcova Jana, Rocca Clarissa, Moutsianas Loukas, Marini-Bettolo Chiara, Walker Helen, Turner Chris, Shoai Maryam, Long Jeffrey D, Fratta Pietro, Langbehn Douglas R, Tabrizi Sarah J, Caulfield Mark J, Cortese Andrea, Escott-Price Valentina, Hardy John, Houlden Henry, Sharp Andrew J, Tucci Arianna

Abstract excerpt

Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs are hampered by heterogeneous clinical presentation, variable geographic distributions and technological limitations leading to underascertainment. Here, leveraging whole-genome...

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PMID: 39354197
DOI: 10.1038/s41591-024-03190-5
PMCID: PMC11564083

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