Application of Genetic Diagnosis in Pediatrics
A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Omics/Informatics".
Deadline for manuscript submissions: 10 February 2026 | Viewed by 15
Special Issue Editor
Special Issue Information
Dear Colleagues,
Next-generation sequencing and multi-omic profiling in health and disease are revolutionizing the diagnosis and understanding of pediatric disorders across multiple biological levels. Traditional diagnostic approaches are now being replaced by more granular frameworks capable of dissecting anomalies at single-cell resolution. This shift has led to the more effective diagnosis of rare or complex pediatric conditions that previously involved years of inconclusive evaluations. Today, robust high-throughput computational methods are enabling genomic approaches that significantly shorten diagnostic timelines, offering earlier clarity and enabling personalized interventions.
This Special Issue will bring together cutting-edge studies that demonstrate the translational value of genetic diagnosis in pediatric care, from identifying actionable mutations to unraveling dysregulated transcriptomic and epigenomic landscapes, thereby informing prognosis, guiding precision therapies, and supporting informed family planning.
We particularly welcome contributions exploring the integration of genomic, transcriptomic, and epigenomic data into routine pediatric care, the development of novel diagnostic algorithms, machine learning applications, population-scale pediatric genomics, and ethical or policy considerations in early genetic testing.
We invite original research articles, clinical case series, comprehensive reviews, and opinion pieces that highlight the expanding role of genetics in pediatric diagnosis and care.
Dr. Avinash Veerappa
Guest Editor
Manuscript Submission Information
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Keywords
- pediatric diagnosis
- rare diseases
- genome sequencing
- exome sequencing
- genetic diseases
- mutations
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