Article
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.
Genome medicine - 9 Jan 2026
Ek Marlene, Kvarnung Malin, Ten Berk de Boer Esmee, La Fleur Linnéa, Ljöstad Lena, Lyander Anna, Faergeman Søren Lejsted, Drue Simon Opstrup, Thonberg Håkan, Nordgren Ann, Soller Maria Johansson, Wirta Valtteri, Eisfeldt Jesper, Lindstrand Anna
Abstract excerpt
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...
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