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Article

Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study

22 May 2024

Abstract excerpt

OBJECTIVE: To resolve unsolved whole-genome sequencing (WGS) data in individuals with paediatric neurological disorders. DESIGN: A cohort study method using updated bioinformatic tools, new analysis targets, clinical information and literature databases was employed to reanalyse existing unsolved genome data. PARTICIPANTS: From January 2016 to September 2023, a total of 615 individuals who aged under 18 years...

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PMID: 38789118
DOI: 10.1136/archdischild-2024-326985

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