Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders-Reference-Cited by-同舟云学术

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Published:2016-06-28 Issue:1 Volume:10 Page:
ISSN:1479-7364
Container-title:Human Genomics
language:en
Short-container-title:Hum Genomics

Author:

Fokstuen S.,Makrythanasis P.,Hammar E.,Guipponi M.,Ranza E.,Varvagiannis K.,Santoni F. A.,Albarca-Aguilera M.,Poleggi M. E.,Couchepin F.,Brockmann C.,Mauron A.,Hurst S. A.,Moret C.,Gehrig C.,Vannier A.,Bevillard J.,Araud T.,Gimelli S.,Stathaki E.,Paoloni-Giacobino A.,Bottani A.,Sloan-Béna F.,Sizonenko L. D’Amato,Mostafavi M.,Hamamy H.,Nouspikel T.,Blouin J. L.,Antonarakis S. E.

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40246-016-0080-4

Reference26 articles.

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2. Ng SB et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet. 2010;42(1):30–5.

3. Makrythanasis P, Antonarakis SE. High-throughput sequencing and rare genetic diseases. Mol Syndromol. 2012;3(5):197–203.

4. Metzker ML. Sequencing technologies—the next generation. Nat Rev Genet. 2010;11(1):31–46.

5. Biesecker LG. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project. Genet Med. 2012;14(4):393–8.

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