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

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ID: 115012
2017
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Abstract
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.
Reference Key
h2017geneticsclinical Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors 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;;
Journal Genetics in medicine : official journal of the American College of Medical Genetics
Year 2017
DOI
DOI not found
URL
https://www.pubmed.gov/28102861/
Keywords
National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine female male Sequence Analysis anemia pmid:28102861 doi:10.1038/gim.2016.197 hideki muramatsu yusuke okuno seiji kojima aplastic / diagnosis* aplastic / genetics* bone marrow diseases / diagnosis* bone marrow diseases / genetics* bone marrow failure disorders exome / genetics genetic testing hemoglobinuria paroxysmal / diagnosis* paroxysmal / genetics* high-throughput nucleotide sequencing / methods high-throughput nucleotide sequencing / statistics & numerical data* mutation / genetics dna / methods whole exome sequencing / methods

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