Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201419.pdf
Reference26 articles.
1. Hindorff LA, Sethupathy P, Junkins HA et al: Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106: 9362–9367.
2. Maller JB, McVean G, Byrnes J et al: Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat Genet 2012; 44: 1294–1301.
3. Shea J, Agarwala V, Philippakis AA et al: Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Nat Genet 2011; 43: 801–805.
4. Kryukov GV, Pennacchio LA, Sunyaev SR : Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007; 80: 727–739.
5. Cirulli ET, Goldstein DB : Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010; 11: 415–425.
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