Paediatric genomics: diagnosing rare disease in children.

Abstract excerpt

The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with current technologies and knowledge is often still a challenge. Paediatric genomics is an immature but rapidly evolving field that tackles this issue by incorporating next-generation sequencing technologies, especially whole-exome sequencing and whole-genome...

Topics

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• Infant, Newborn
• Rare Diseases
• Child
• Child, Preschool
• Genome, Human
• Genome-Wide Association Study