Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Hideki MuramatsuYusuke OkunoKenichi YoshidaYuichi ShiraishiSayoko DoisakiAtsushi NaritaHirotoshi SakaguchiNozomu KawashimaXinan WangYinyan XuKenichi ChibaHiroko TanakaAsahito HamaMasashi SanadaYoshiyuki TakahashiHitoshi KannoHiroki YamaguchiShouichi OhgaAtsushi ManabeHideo HarigaeShinji KunishimaEiichi IshiiMasao KobayashiKenichi KoikeKenichiro WatanabeEtsuro ItoMinoru TakataMiharu YabeSeishi OgawaSatoru MiyanoSeiji KojimaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
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.