Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

Hideki Muramatsu; Yusuke Okuno; Kenichi Yoshida; Yuichi Shiraishi; Sayoko Doisaki; Atsushi Narita; Hirotoshi Sakaguchi; Nozomu Kawashima; Xinan Wang; Yinyan Xu; Kenichi Chiba; Hiroko Tanaka; Asahito Hama; Masashi Sanada; Yoshiyuki Takahashi; Hitoshi Kanno; Hiroki Yamaguchi; Shouichi Ohga; Atsushi Manabe; Hideo Harigae; Shinji Kunishima; Eiichi Ishii; Masao Kobayashi; Kenichi Koike; Kenichiro Watanabe; Etsuro Ito; Minoru Takata; Miharu Yabe; Seishi Ogawa; Satoru Miyano; Seiji Kojima

doi:10.1038/gim.2016.197

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo HarigaeShinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano, Seiji Kojima

Reproductive and Developmental Medicine

Research output: Contribution to journal › Article › peer-review

52 Citations (Scopus)

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.

Original language	English
Pages (from-to)	796-802
Number of pages	7
Journal	Genetics in Medicine
Volume	19
Issue number	7
DOIs	https://doi.org/10.1038/gim.2016.197
Publication status	Published - Jul 1 2017

All Science Journal Classification (ASJC) codes

Genetics(clinical)

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10.1038/gim.2016.197

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Muramatsu, H., Okuno, Y., Yoshida, K., Shiraishi, Y., Doisaki, S., Narita, A., Sakaguchi, H., Kawashima, N., Wang, X., Xu, Y., Chiba, K., Tanaka, H., Hama, A., Sanada, M., Takahashi, Y., Kanno, H., Yamaguchi, H., Ohga, S., Manabe, A., ... Kojima, S. (2017). Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genetics in Medicine, 19(7), 796-802. https://doi.org/10.1038/gim.2016.197

Muramatsu, H, Okuno, Y, Yoshida, K, Shiraishi, Y, Doisaki, S, Narita, A, Sakaguchi, H, Kawashima, N, Wang, X, Xu, Y, Chiba, K, Tanaka, H, Hama, A, Sanada, M, Takahashi, Y, Kanno, H, Yamaguchi, H, Ohga, S, Manabe, A, Harigae, H, Kunishima, S, Ishii, E, Kobayashi, M, Koike, K, Watanabe, K, Ito, E, Takata, M, Yabe, M, Ogawa, S, Miyano, S & Kojima, S 2017, 'Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes', Genetics in Medicine, vol. 19, no. 7, pp. 796-802. https://doi.org/10.1038/gim.2016.197

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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.",

author = "Hideki Muramatsu and Yusuke Okuno and Kenichi Yoshida and Yuichi Shiraishi and Sayoko Doisaki and Atsushi Narita and Hirotoshi Sakaguchi and Nozomu Kawashima and Xinan Wang and Yinyan Xu and Kenichi Chiba and Hiroko Tanaka and Asahito Hama and Masashi Sanada and Yoshiyuki Takahashi and Hitoshi Kanno and Hiroki Yamaguchi and Shouichi Ohga and Atsushi Manabe and Hideo Harigae and Shinji Kunishima and Eiichi Ishii and Masao Kobayashi and Kenichi Koike and Kenichiro Watanabe and Etsuro Ito and Minoru Takata and Miharu Yabe and Seishi Ogawa and Satoru Miyano and Seiji Kojima",

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AU - Muramatsu, Hideki

AU - Okuno, Yusuke

AU - Yoshida, Kenichi

AU - Shiraishi, Yuichi

AU - Doisaki, Sayoko

AU - Narita, Atsushi

AU - Sakaguchi, Hirotoshi

AU - Kawashima, Nozomu

AU - Wang, Xinan

AU - Xu, Yinyan

AU - Chiba, Kenichi

AU - Tanaka, Hiroko

AU - Hama, Asahito

AU - Sanada, Masashi

AU - Takahashi, Yoshiyuki

AU - Kanno, Hitoshi

AU - Yamaguchi, Hiroki

AU - Ohga, Shouichi

AU - Manabe, Atsushi

AU - Harigae, Hideo

AU - Kunishima, Shinji

AU - Ishii, Eiichi

AU - Kobayashi, Masao

AU - Koike, Kenichi

AU - Watanabe, Kenichiro

AU - Ito, Etsuro

AU - Takata, Minoru

AU - Yabe, Miharu

AU - Ogawa, Seishi

AU - Miyano, Satoru

AU - Kojima, Seiji

PY - 2017/7/1

Y1 - 2017/7/1

N2 - 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.

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Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

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