Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
| Autor: | Xinan Wang, Kenichi Chiba, Hiroki Yamaguchi, Sayoko Doisaki, Masao Kobayashi, Eiichi Ishii, Etsuro Ito, Yinyan Xu, Hideki Muramatsu, Seiji Kojima, Masashi Sanada, Yuichi Shiraishi, Seishi Ogawa, Satoru Miyano, Shinji Kunishima, Minoru Takata, Kenichi Koike, Hiroko Tanaka, Shouichi Ohga, Atsushi Narita, Yoshiyuki Takahashi, Kenichiro Watanabe, Hitoshi Kanno, Miharu Yabe, Kenichi Yoshida, Asahito Hama, Nozomu Kawashima, Hideo Harigae, Hirotoshi Sakaguchi, Yusuke Okuno, Atsushi Manabe |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male Hemoglobinuria Paroxysmal Bioinformatics DNA sequencing 03 medical and health sciences Fanconi anemia Exome Sequencing medicine Humans Exome Genetic Testing Medical diagnosis Bone Marrow Diseases Genetics (clinical) Exome sequencing Massive parallel sequencing Heterogeneous group business.industry Anemia Aplastic High-Throughput Nucleotide Sequencing Sequence Analysis DNA Bone Marrow Failure Disorders medicine.disease 030104 developmental biology Bone Marrow failure syndromes Mutation Female Genetic diagnosis business |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics. 19(7) |
| ISSN: | 1530-0366 |
| Popis: | 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. We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). 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. 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 |
| Databáze: | OpenAIRE |
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