Modelling Population Genetic Screening in Rare Neurodegenerative Diseases
<b>Importance:</b> Genomic sequencing enables the rapid identification of a breadth of genetic variants. For clinical purposes, sequencing for small genetic variations is considered a solved problem, while challenges remain for structural variants, given the lower sensitivity and specifi...
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| Main Authors: | Thomas P. Spargo, Alfredo Iacoangeli, Mina Ryten, Francesca Forzano, Neil Pearce, Ammar Al-Chalabi |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-04-01
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| Series: | Biomedicines |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9059/13/5/1018 |
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