Modelling Population Genetic Screening in Rare Neurodegenerative Diseases

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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Bibliographic Details
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
Series:Biomedicines
Subjects:
genetic screening
genomics
next-generation sequencing
health informatics
mathematical model
Bayesian probability tools
Online Access:https://www.mdpi.com/2227-9059/13/5/1018
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