Exome sequencing identifies the cause of a mendelian disorder-Reference-Cited by-同舟云学术

Exome sequencing identifies the cause of a mendelian disorder

Published:2009-11-13 Issue:1 Volume:42 Page:30-35
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Ng Sarah B,Buckingham Kati J,Lee Choli,Bigham Abigail W,Tabor Holly K,Dent Karin M,Huff Chad D,Shannon Paul T,Jabs Ethylin Wang,Nickerson Deborah A,Shendure Jay,Bamshad Michael J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.499.pdf

Reference31 articles.

1. Shendure, J. & Ji, H. Next-generation DNA sequencing. Nat. Biotechnol. 26, 1135–1145 (2008).

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

3. Choi, M. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl. Acad. Sci. USA published online, doi:10.1073/pnas.0910672106 (27 October 2009).

4. Hodges, E. et al. Genome-wide in situ exon capture for selective resequencing. Nat. Genet. 39, 1522–1527 (2007).

5. Stenson, P.D. et al. The human gene mutation database: 2008 update. Genome Med 1, 13 (2009).

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