Article

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders

2025-06-25

Abstract excerpt

<title>Abstract</title> <p>Background Singleton short-read genome sequencing (GS) is increasingly used as a first-line genetic test for childhood neurological disorders (such as intellectual disability, neurodevelopmental delay, motor delay, and hypotonia) with diagnostic yields from 26–35%, typically involving a mix of single nucleotide variants and small insertions/deletions (SNV/INDELs), structural variants (...

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Literature Corpus work: fcc6ef03-f3e2-5fc5-a6b7-17c7b5440a44
DOI: 10.21203/rs.3.rs-6863124/v1

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