Exome sequencing as a tool for Mendelian disease gene discovery-Reference-Cited by-同舟云学术

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Exome sequencing as a tool for Mendelian disease gene discovery

Published:2011-09-27 Issue:11 Volume:12 Page:745-755
ISSN:1471-0056
Container-title:Nature Reviews Genetics
language:en
Short-container-title:Nat Rev Genet

Author:

Bamshad Michael J.,Ng Sarah B.,Bigham Abigail W.,Tabor Holly K.,Emond Mary J.,Nickerson Deborah A.,Shendure Jay

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/nrg3031.pdf

Reference91 articles.

1. McKusick, V. A. Mendelian Inheritance in Man and its online version, OMIM. Am. J. Hum. Genet. 80, 588–604 (2007).

2. Kaiser, J. Human genetics. Affordable 'exomes' fill gaps in a catalogue of rare diseases. Science 330, 903 (2010).

3. Antonarakis, S. E. & Beckmann, J. S. Mendelian disorders deserve more attention. Nature Rev. Genet. 7, 277–282 (2006).

4. Schork, N. J., Murray, S. S., Frazer, K. A. & Topol, E. J. Common vs. rare allele hypotheses for complex diseases. Curr. Opin. Genet. Dev. 19, 212–219 (2009).

5. Manolio, T. A. et al. Finding the missing heritability of complex diseases. Nature 461, 747–753 (2009).

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