Article

Modelling population genetic screening in rare neurodegenerative diseases

2023-07-03

Abstract excerpt

<h4>Importance</h4> Genomic sequencing enables 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 specificity. Interest has recently risen among governing bodies in developing protocols for population-wide genetic screening. However, usef...

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Literature Corpus work: 3e6c314c-951c-5e88-b936-b33b25aaa25f
DOI: 10.1101/2023.07.03.23292187

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