Next Generation Sequencing (NGS) for Rare Diseases Diagnosis - Volume II

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Editorial

10 July 2023

Editorial: Next generation sequencing (NGS) for rare diseases diagnosis ‐ Volume II

Xiu-An Yang

,

Hu Hao

and

Can Liao

2,848 views

3 citations

Editors

3

Xiu-An Yang

Chengde Medical University

Hu Hao

Department of Pediatrics, The Sixth Affiliated Hospital of Sun Yat-sen University

Can Liao

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center

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About

This Research Topic is part of a series with:

Next Generation Sequencing (NGS) for Rare Diseases Diagnosis – Volume I

The rapidly increasing amount of genome data provides wide opportunities to address new research questions and to translate new knowledge into clinical practice. Currently, the 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. In Volume I, new genes and rare variants were identified in the studies enrolled in this special topic, showing the important role of NGS in providing a tremendous opportunity to better serve our patients. This is a fantastic achievement, and we intend to build on this success by launching a second volume of the Research Topic.

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 diseases, 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 diseases, 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. Studies with a low number of cases are highly encouraged, for example, the total number of loci is less than 10.

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

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Editors

Xiu-An Yang

Chengde Medical University

Hu Hao

Department of Pediatrics, The Sixth Affiliated Hospital of Sun Yat-sen University

Can Liao

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center

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48,400 Total views

34,429 Article views

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868 Topic views

Published In

Frontiers in Genetics

Genetics of Common and Rare Diseases, Human and Medical Genomics

Frontiers in Pediatrics

Genetics of Common and Rare Diseases

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