About this Research Topic
Genomic sequencing has emerged as one of the most promising diagnostic tools in the field of rare diseases, particularly those affecting the pediatric population. Several studies have demonstrated how the adoption of these technologies increases the diagnostic rate and reduces the time to diagnosis, improving outcomes while reducing health costs. However, DNA sequencing seems to be reaching its diagnostic limit and new approaches and tools are needed to overcome these limitations. RNA sequencing (RNA-Seq) has emerged as a useful tool in the field of rare diseases, allowing the identification of new disease mechanisms and helping us to better understand the information generated by DNA sequencing.
This Research Topic aims to describe the actual use and future perspectives of RNA-Seq for rare disease diagnosis in the pediatric population.
The editors envisage seeing the following thematic areas covered in this collection:
• RNA-Seq diagnostic applications for pediatric patients
• Applications of RNA-Seq for the improvement of disease diagnosis, monitoring and treatment
• Identification of disease biomarkers in pediatric patients using RNA-Seq
• Integration of transcriptomic and genomic data in pediatric rare diseases
• Identification of new disease mechanisms.
* Note: Guest Editor Dr. Emiliano González Vioque has a patent: Treatment Of Mitochondrial Diseases *
Keywords: NGS, rare diseases, RNA-seq, Integrative omics
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