Cargando…

Application of genome analysis strategies in the clinical testing for pediatric diseases

Next‐generation sequencing (NGS) is being used in clinical testing. Government authorities in both China and the United States are overseeing the clinical application of NGS instruments and reagents. In addition, the US Association for Molecular Pathology and the College of American Pathologists hav...

Descripción completa

Detalles Bibliográficos
Autores principales: Jin, Yaqiong, Zhang, Li, Ning, Baitang, Hong, Huixiao, Xiao, Wenming, Tong, Weida, Tao, Yiran, Ni, Xin, Shi, Tieliu, Guo, Yongli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089540/
https://www.ncbi.nlm.nih.gov/pubmed/30112248
http://dx.doi.org/10.1002/ped4.12044
Descripción
Sumario:Next‐generation sequencing (NGS) is being used in clinical testing. Government authorities in both China and the United States are overseeing the clinical application of NGS instruments and reagents. In addition, the US Association for Molecular Pathology and the College of American Pathologists have jointly released a guidance to standardize the analysis and interpretation of NGS data involved in clinical testing. At present, the analysis strategies and pipelines for NGS data related to the clinical detection of pediatric disease are similar to those used for adult diseases. However, for rare pediatric diseases without linkage to known genetic variants, it is currently difficult to detect the relevant pathogenic genes using NGS technology. Additionally, it is challenging to identify novel pathogenic genes of familial pediatric tumors. Therefore, characterization of the pathogenic genes associated with above diseases is important for the diagnosis and treatment of rare diseases in children. This article introduces the general pipelines for NGS data analyses of diseases and elucidates data analysis strategies for the pathogenic genes of rare pediatric diseases and familial pediatric tumors.