Next-generation diagnostics and disease-gene discovery with the Exomiser-Reference-Cited by-同舟云学术

Next-generation diagnostics and disease-gene discovery with the Exomiser

Published:2015-11-12 Issue:12 Volume:10 Page:2004-2015
ISSN:1754-2189
Container-title:Nature Protocols
language:en
Short-container-title:Nat Protoc

Author:

Smedley Damian,Jacobsen Julius O B^ORCID,Jäger Marten,Köhler Sebastian^ORCID,Holtgrewe Manuel,Schubach Max,Siragusa Enrico,Zemojtel Tomasz,Buske Orion J^ORCID,Washington Nicole L,Bone William P,Haendel Melissa A,Robinson Peter N^ORCID

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology

Link

http://www.nature.com/articles/nprot.2015.124.pdf

Reference78 articles.

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2. Ng, S.B. et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272–276 (2009).

3. Yang, Y. et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N. Engl. J. Med. 369, 1502–1511 (2013).

4. Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870–1879 (2014).

5. Zemojtel, T. et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci. Transl. Med. 6, 252ra123 (2014).

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