Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
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...
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| Published in | Genetics in medicine Vol. 19; no. 7; pp. 796 - 802 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.07.2017
Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1098-3600 1530-0366 |
| DOI | 10.1038/gim.2016.197 |
Cover
| Abstract | 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 |
|---|---|
| AbstractList | PURPOSEPrecise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making.METHODSWe analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES).RESULTSWe 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.CONCLUSIONOur 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. 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 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 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. |
| Author | Shiraishi, Yuichi Chiba, Kenichi Takahashi, Yoshiyuki Sanada, Masashi Sakaguchi, Hirotoshi Ogawa, Seishi Manabe, Atsushi Yabe, Miharu Hama, Asahito Kunishima, Shinji Muramatsu, Hideki Tanaka, Hiroko Miyano, Satoru Kojima, Seiji Okuno, Yusuke Koike, Kenichi Kobayashi, Masao Ito, Etsuro Takata, Minoru Xu, Yinyan Ishii, Eiichi Harigae, Hideo Yoshida, Kenichi Doisaki, Sayoko Ohga, Shouichi Watanabe, Kenichiro Yamaguchi, Hiroki Kanno, Hitoshi Wang, Xinan Kawashima, Nozomu Narita, Atsushi |
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surname: Ishii fullname: Ishii, Eiichi organization: Department of Pediatrics, Ehime University Graduate School of Medicine – sequence: 23 givenname: Masao surname: Kobayashi fullname: Kobayashi, Masao organization: Department of Pediatrics, Hiroshima University Hospital – sequence: 24 givenname: Kenichi surname: Koike fullname: Koike, Kenichi organization: Department of Pediatrics, Shinshu University School of Medicine – sequence: 25 givenname: Kenichiro surname: Watanabe fullname: Watanabe, Kenichiro organization: Department of Hematology/Oncology, Shizuoka Children’s Hospital – sequence: 26 givenname: Etsuro orcidid: 0000-0002-0168-2475 surname: Ito fullname: Ito, Etsuro organization: Department of Pediatrics, Hirosaki University Graduate School of Medicine – sequence: 27 givenname: Minoru orcidid: 0000-0002-4926-3675 surname: Takata fullname: Takata, Minoru organization: Department of Late Effects Studies, Laboratory of DNA Damage Signaling, Radiation Biology Center, Kyoto University – sequence: 28 givenname: Miharu orcidid: 0000-0003-0697-5506 surname: Yabe fullname: Yabe, Miharu organization: Department of Cell Transplantation and Regenerative Medicine, Tokai University Hospital – sequence: 29 givenname: Seishi surname: Ogawa fullname: Ogawa, Seishi organization: Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University – sequence: 30 givenname: Satoru orcidid: 0000-0002-1753-6616 surname: Miyano fullname: Miyano, Satoru organization: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo – sequence: 31 givenname: Seiji surname: Kojima fullname: Kojima, Seiji email: kojimas@med.nagoya-u.ac.jp organization: Department of Pediatrics, Nagoya University Graduate School of Medicine |
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Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential... Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for... Purpose:Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential... PURPOSEPrecise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential... |
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| SubjectTerms | 631/208/2489/144 631/208/514/2254 692/699/1541 692/700/139/1512 Anemia, Aplastic - diagnosis Anemia, Aplastic - genetics Biomedical and Life Sciences Biomedicine Bone marrow Bone Marrow Diseases - diagnosis Bone Marrow Diseases - genetics Bone Marrow Failure Disorders Exome - genetics Female Genetic Testing Hemoglobinuria, Paroxysmal - diagnosis Hemoglobinuria, Paroxysmal - genetics High-Throughput Nucleotide Sequencing - methods High-Throughput Nucleotide Sequencing - statistics & numerical data Human Genetics Humans Laboratory Medicine Male Mutation - genetics original-research-article Sequence Analysis, DNA - methods Whole Exome Sequencing - methods |
| Title | Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes |
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