Sequencing studies in human genetics: design and interpretation-Reference-Cited by-同舟云学术

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Sequencing studies in human genetics: design and interpretation

Published:2013-06-11 Issue:7 Volume:14 Page:460-470
ISSN:1471-0056
Container-title:Nature Reviews Genetics
language:en
Short-container-title:Nat Rev Genet

Author:

Goldstein David B.,Allen Andrew,Keebler Jonathan,Margulies Elliott H.,Petrou Steven,Petrovski Slavé,Sunyaev Shamil

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/nrg3455.pdf

Reference89 articles.

1. Hindorff, L. A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA 106, 9362–9367 (2009).

2. McCarthy, M. I. et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Rev. Genet. 9, 356–369 (2008). This influential Review compiles into one paper the basics of doing a GWAS, including best practice guidelines, such as controlling for population stratification. The Review also reinforces the universally followed guideline of 5 × 10−8 as a threshold for significance in GWAS.

3. Hoggart, C. J., Clark, T. G., De Iorio, M., Whittaker, J. C. & Balding, D. J. Genome-wide significance for dense SNP and resequencing data. Genet. Epidemiol. 32, 179–185 (2008).

4. Cirulli, E. T. & Goldstein, D. B. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nature Rev. Genet. 11, 415–425 (2010).

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

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