A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations-Reference-Cited by-同舟云学术

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

Published:2015-03-19 Issue:1 Volume:5 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Miya Fuyuki,Kato Mitsuhiro,Shiohama Tadashi,Okamoto Nobuhiko,Saitoh Shinji,Yamasaki Mami,Shigemizu Daichi,Abe Tetsuo,Morizono Takashi,Boroevich Keith A.,Kosaki Kenjiro,Kanemura Yonehiro,Tsunoda Tatsuhiko

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep09331.pdf

Reference27 articles.

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2. Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745–755 (2011).

3. Biesecker, L. G. Exome sequencing makes medical genomics a reality. Nat. Genet. 42, 13–14 (2010).

4. Zhang, X. Exome sequencing greatly expedites the progressive research of Mendelian diseases. Front. Med. 8, 42–57 (2014).

5. Atwal, P. S. et al. Clinical whole-exome sequencing: are we there yet? Genet. Med. 16, 717–719 (2014).

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