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.
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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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