Research Topic

Next Generation Sequencing (NGS) for Rare Diseases Diagnosis

About this Research Topic

The rapidly increasing amount of genome data provides wide opportunities to address new research questions and to translate new knowledge in clinical practice. Currently, most mature areas for clinical applications of genomics include rare disease diagnostics, oncology, infectious diseases, and pharmacogenomics. We expect that the next wave is seen in improving our understanding of chronic diseases that change traditional diagnostic categories. These new disease classifications hopefully result in new, more tailored treatment and prediction options.

Genomic Medicine publishes high-quality research that facilitates the use of genomic information in medicine, including treatment, diagnostics, and prevention. We welcome manuscripts from all pediatric disease disciplines, both rare and common disease, and from all steps of the translation process provided that they offer perspective on how the results can be applied to advance and improve health and healthcare. For rare disease, in addition to reporting pathogenic mutations, we hope that the studies will cover the clinical manifestations, biochemistry and imaging result, the treatment process and even genetic counseling. In-depth research will be encouraged, including functional experiments, structural biology and bioinformatics, which can explain the pathogenesis of diseases. For this Research Topic in vivo studies will be prioritized.

Examples of areas of interest include:

• Using genomics in pediatric patients or treatment stratification
• Using genomics to improve prevention, risk evaluation and early intervention for pediatric patients
• Using genomics to monitor disease progression for pediatric patients
• Diagnostic applications of genomics for pediatric patients
• Genomic strategies to develop treatment modalities for pediatric patients
• Communicating genomic information, and the impact of receiving individual genomic risk information
• Methods and strategies for handling genomic data in healthcare-related settings


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

The rapidly increasing amount of genome data provides wide opportunities to address new research questions and to translate new knowledge in clinical practice. Currently, most mature areas for clinical applications of genomics include rare disease diagnostics, oncology, infectious diseases, and pharmacogenomics. We expect that the next wave is seen in improving our understanding of chronic diseases that change traditional diagnostic categories. These new disease classifications hopefully result in new, more tailored treatment and prediction options.

Genomic Medicine publishes high-quality research that facilitates the use of genomic information in medicine, including treatment, diagnostics, and prevention. We welcome manuscripts from all pediatric disease disciplines, both rare and common disease, and from all steps of the translation process provided that they offer perspective on how the results can be applied to advance and improve health and healthcare. For rare disease, in addition to reporting pathogenic mutations, we hope that the studies will cover the clinical manifestations, biochemistry and imaging result, the treatment process and even genetic counseling. In-depth research will be encouraged, including functional experiments, structural biology and bioinformatics, which can explain the pathogenesis of diseases. For this Research Topic in vivo studies will be prioritized.

Examples of areas of interest include:

• Using genomics in pediatric patients or treatment stratification
• Using genomics to improve prevention, risk evaluation and early intervention for pediatric patients
• Using genomics to monitor disease progression for pediatric patients
• Diagnostic applications of genomics for pediatric patients
• Genomic strategies to develop treatment modalities for pediatric patients
• Communicating genomic information, and the impact of receiving individual genomic risk information
• Methods and strategies for handling genomic data in healthcare-related settings


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

01 November 2020 Abstract
01 March 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

01 November 2020 Abstract
01 March 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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