Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.

ABSTRACT:

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 to 35%, typically involving a mix of single nucleotide variants and small insertions/deletions (SNV/INDELs), structural variants (SVs), and short tandem repeats (STRs). Long-read GS is emerging as an attractive alternative, offering a more comprehensive assessment of the genome, but its utility still needs to be systematically evaluated in a clinical diagnostic setting.

Methods

We prospectively included 100 children and adolescents (≤ 20 years) with neurological disorders, newly referred for genetic testing. Routine DN

SUBMITTER: Ek M 

PROVIDER: S-EPMC12838436 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature