Article

Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay

2024-07-26

Abstract excerpt

<h4>BACKGROUND</h4> Fragile X syndrome (FXS) is the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities. Although the value of population-based FXS carrier screening has been acknowledged, appropriate screening methods are urgently required to establish and implement screening programs. <h4>METHODS</h4> We developed a nanopore sequencing-based assay that includes data analys...

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Literature Corpus work: 45c3d011-59e1-562f-b81f-e4396232da47
DOI: 10.1101/2024.07.23.24310865

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