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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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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 |
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author | Jin, Yaqiong Zhang, Li Ning, Baitang Hong, Huixiao Xiao, Wenming Tong, Weida Tao, Yiran Ni, Xin Shi, Tieliu Guo, Yongli |
author_facet | Jin, Yaqiong Zhang, Li Ning, Baitang Hong, Huixiao Xiao, Wenming Tong, Weida Tao, Yiran Ni, Xin Shi, Tieliu Guo, Yongli |
author_sort | Jin, Yaqiong |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6089540 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-60895402018-08-13 Application of genome analysis strategies in the clinical testing for pediatric diseases Jin, Yaqiong Zhang, Li Ning, Baitang Hong, Huixiao Xiao, Wenming Tong, Weida Tao, Yiran Ni, Xin Shi, Tieliu Guo, Yongli Pediatr Investig Recommendations 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. John Wiley and Sons Inc. 2018-07-16 /pmc/articles/PMC6089540/ /pubmed/30112248 http://dx.doi.org/10.1002/ped4.12044 Text en © 2018 Chinese Medical Association. Pediatric Investigation published by John Wiley & Sons Australia, Ltd on behalf of Futang Research Center of Pediatric Development. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Recommendations Jin, Yaqiong Zhang, Li Ning, Baitang Hong, Huixiao Xiao, Wenming Tong, Weida Tao, Yiran Ni, Xin Shi, Tieliu Guo, Yongli Application of genome analysis strategies in the clinical testing for pediatric diseases |
title | Application of genome analysis strategies in the clinical testing for pediatric diseases |
title_full | Application of genome analysis strategies in the clinical testing for pediatric diseases |
title_fullStr | Application of genome analysis strategies in the clinical testing for pediatric diseases |
title_full_unstemmed | Application of genome analysis strategies in the clinical testing for pediatric diseases |
title_short | Application of genome analysis strategies in the clinical testing for pediatric diseases |
title_sort | application of genome analysis strategies in the clinical testing for pediatric diseases |
topic | Recommendations |
url | 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 |
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