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Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia
Inherited thrombocytopenia is a group of hereditary diseases with a reduction in platelet count as the main clinical manifestation. Clinically, there is an urgent need for a convenient and rapid diagnosis method. We introduced a high-throughput, next-generation sequencing (NGS) platform into the rou...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714838/ https://www.ncbi.nlm.nih.gov/pubmed/30103613 http://dx.doi.org/10.1177/1076029618790696 |
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author | Wang, Qi Cao, Lijuan Sheng, Guangying Shen, Hongjie Ling, Jing Xie, Jundan Ma, Zhenni Yin, Jie Wang, Zhaoyue Yu, Ziqiang Chen, Suning Zhao, Yiming Ruan, Changgeng Xia, Lijun Jiang, Miao |
author_facet | Wang, Qi Cao, Lijuan Sheng, Guangying Shen, Hongjie Ling, Jing Xie, Jundan Ma, Zhenni Yin, Jie Wang, Zhaoyue Yu, Ziqiang Chen, Suning Zhao, Yiming Ruan, Changgeng Xia, Lijun Jiang, Miao |
author_sort | Wang, Qi |
collection | PubMed |
description | Inherited thrombocytopenia is a group of hereditary diseases with a reduction in platelet count as the main clinical manifestation. Clinically, there is an urgent need for a convenient and rapid diagnosis method. We introduced a high-throughput, next-generation sequencing (NGS) platform into the routine diagnosis of patients with unexplained thrombocytopenia and analyzed the gene sequencing results to evaluate the value of NGS technology in the screening and diagnosis of inherited thrombocytopenia. From a cohort of 112 patients with thrombocytopenia, we screened 43 patients with hereditary features. For the blood samples of these 43 patients, a gene sequencing platform for hemorrhagic and thrombotic diseases comprising 89 genes was used to perform gene detection using NGS technology. When we combined the screening results with clinical features and other findings, 15 (34.9%) of 43patients were diagnosed with inherited thrombocytopenia. In addition, 19 pathogenic variants, including 8 previously unreported variants, were identified in these patients. Through the use of this detection platform, we expect to establish a more effective diagnostic approach to such disorders. |
format | Online Article Text |
id | pubmed-6714838 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-67148382019-09-04 Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia Wang, Qi Cao, Lijuan Sheng, Guangying Shen, Hongjie Ling, Jing Xie, Jundan Ma, Zhenni Yin, Jie Wang, Zhaoyue Yu, Ziqiang Chen, Suning Zhao, Yiming Ruan, Changgeng Xia, Lijun Jiang, Miao Clin Appl Thromb Hemost Original Articles Inherited thrombocytopenia is a group of hereditary diseases with a reduction in platelet count as the main clinical manifestation. Clinically, there is an urgent need for a convenient and rapid diagnosis method. We introduced a high-throughput, next-generation sequencing (NGS) platform into the routine diagnosis of patients with unexplained thrombocytopenia and analyzed the gene sequencing results to evaluate the value of NGS technology in the screening and diagnosis of inherited thrombocytopenia. From a cohort of 112 patients with thrombocytopenia, we screened 43 patients with hereditary features. For the blood samples of these 43 patients, a gene sequencing platform for hemorrhagic and thrombotic diseases comprising 89 genes was used to perform gene detection using NGS technology. When we combined the screening results with clinical features and other findings, 15 (34.9%) of 43patients were diagnosed with inherited thrombocytopenia. In addition, 19 pathogenic variants, including 8 previously unreported variants, were identified in these patients. Through the use of this detection platform, we expect to establish a more effective diagnostic approach to such disorders. SAGE Publications 2018-08-13 2018-12 /pmc/articles/PMC6714838/ /pubmed/30103613 http://dx.doi.org/10.1177/1076029618790696 Text en © The Author(s) 2018 http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Original Articles Wang, Qi Cao, Lijuan Sheng, Guangying Shen, Hongjie Ling, Jing Xie, Jundan Ma, Zhenni Yin, Jie Wang, Zhaoyue Yu, Ziqiang Chen, Suning Zhao, Yiming Ruan, Changgeng Xia, Lijun Jiang, Miao Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia |
title | Application of High-Throughput Sequencing in the Diagnosis of Inherited
Thrombocytopenia |
title_full | Application of High-Throughput Sequencing in the Diagnosis of Inherited
Thrombocytopenia |
title_fullStr | Application of High-Throughput Sequencing in the Diagnosis of Inherited
Thrombocytopenia |
title_full_unstemmed | Application of High-Throughput Sequencing in the Diagnosis of Inherited
Thrombocytopenia |
title_short | Application of High-Throughput Sequencing in the Diagnosis of Inherited
Thrombocytopenia |
title_sort | application of high-throughput sequencing in the diagnosis of inherited
thrombocytopenia |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714838/ https://www.ncbi.nlm.nih.gov/pubmed/30103613 http://dx.doi.org/10.1177/1076029618790696 |
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