2017年7月
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Genetics in medicine : official journal of the American College of Medical Genetics
- 巻
- 19
- 号
- 7
- 開始ページ
- 796
- 終了ページ
- 802
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/gim.2016.197
- 出版者・発行元
- NATURE PUBLISHING GROUP
PURPOSE: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. METHODS: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). RESULTS: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES. In the majority of cases (targeted sequencing: 45/53, 85%; WES: 63/68, 93%), the detected variants were concordant with, and therefore supported, the clinical diagnoses. However, in the remaining 13 cases (8 patients by target sequencing and 5 patients by WES), the clinical diagnoses were incompatible with the detected variants. CONCLUSION: Our approach utilizing targeted sequencing and WES achieved satisfactory diagnostic rates and supported the efficacy of massive parallel sequencing as a diagnostic tool for IBMFS.Genet Med advance online publication 19 January 2017.
- リンク情報
- ID情報
-
- DOI : 10.1038/gim.2016.197
- ISSN : 1098-3600
- eISSN : 1530-0366
- PubMed ID : 28102861
- Web of Science ID : WOS:000405385000012