Long‐read sequencing reveals common structural variants as potential drivers of genetic rick for neurodegenerative diseases
Alex N Salazar, Niccoló Tesi, Daniel Alvarez Sirvent, Lydian Knoop, Yaran Zhang, Sven J van der Lee, Sanduni Wijesekera, Jana Krizova, Wiesje M van der Flier, Yolande AL Pijnenburg, Marcel JT Reinders, Marc Hulsman, Henne Holstege · 2025
Read Long‐read sequencing reveals common structural variants as potential drivers of genetic rick for neurodegenerative diseases by Alex N Salazar, Niccoló Tesi, Daniel Alvarez Sirvent, Lydian Knoop, Yaran Zhang, Sven J van der Lee, Sanduni Wijesekera, Jana Krizova, Wiesje M van der Flier, Yolande AL Pijnenburg, Marcel JT Reinders, Marc Hulsman, Henne Holstege (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11710450.txt.
Description
Alex Salazar and co-authors use long-read sequencing to test whether large structural DNA changes, not just single-letter ones, drive Alzheimer's disease risk. Gene studies had flagged eighty-six markers for the disease, but markers only point at nearby culprits. The team sequenced two hundred fourteen people at the extremes: ninety-three patients and one hundred twenty-one healthy centenarians. They catalogued structural variants over fifty letters long and checked overlap with the known markers.
They found over twenty-seven thousand common structural variants, mostly tandem repeats and jumping elements. Thirty-seven disease markers traveled together with ninety structural variants. In six regions, the variant linked to disease more strongly than the original marker did. Complex stretches carrying several repeats and jumping elements sat behind many of these signals. The authors argue structural variants deserve a central place in Alzheimer's genetics.
Catalog record
| CREATOR | Alex N Salazar, Niccoló Tesi, Daniel Alvarez Sirvent, Lydian Knoop, Yaran Zhang, Sven J van der Lee, Sanduni Wijesekera, Jana Krizova, Wiesje M van der Flier, Yolande AL Pijnenburg, Marcel JT Reinders, Marc Hulsman, Henne Holstege |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 2 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |