Replicating genotype–phenotype associations
By Stephen J. Chanock, Teri Manolio, Michael Boehnke, Eric Boerwinkle, D. Hunter, Gilles Thomas, Joel Hirschhorn, Gonçalo R. Abecasis, David Altshuler, J. Bailey-Wilson and 27 more. Nature, 2007
1,394 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/bab49438d46d14bf37822f83ccfc6ba11f314589
How researchers see this paper
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In Genetics
- Jonathan Marchini
- John P. A. Ioannidis
- Peter Donnelly
- David J. Balding
- Eleftheria Zeggini
- Peter Kraft
- Stephan Beck
- W. English
In Molecular Biology
- Stephan Beck
- Rudolph E. Tanzi
- J. Koch
- Jonathan Marchini
- David J. Balding
- W. English
- Christina M. Lill
- Peter Donnelly
Citations in the corpus
- Human genetic variation and its contribution to complex traits (2009, background): “It is important that association studies involving structural variants are subjected to the same standards of quality control and replication that have been developed for SNP-based studie”
- A Critical Review of the First 10 Years of Candidate Gene-by-Environment Interaction Research in Psychiatry (2011, positive): “Given the likely high false positive rate among novel findings (19) and indirect replications (36, 37) and the low false positive rate among direct replications (36), well-powered studies conducted with the express purpose of closely replicating previous findings should be viewed as more scientifica”
- Breeding trees resistant to insects and diseases: putting theory into application (2017, background): “Strict guidelines for experimental design, including replication and validation of association genetics studies, are being devised in the realm of human genetics (Chanock et al. 2007) and will be needed in plant studies as well, before GWAS can be translated into applied breeding and management (Cal”
- Replication in genome-wide association studies (2009, background): “[5] Many highprofile journals now will not publish genotype-phenotype associations without concrete evidence of replication.”
- The genetics of Alzheimer disease: back to the future. (2010, background): “For common variants, i.e., those typically assayed in candidate gene or GWAS approaches, several guidelines have already been suggested (e.g., Chanock et al., 2007; Little et al., 2009; Khoury et al., 2009) that essentially amount to demonstrating genome-wide significance upon combining results…”
- Cytokines and their relationship to the symptoms and outcome of cancer (2008, background): “Generally, candidate gene studies are considered to be informative but to have limitations, a lack of replication being the main concern in these relatively small studie”
- Discovering susceptibility genes for asthma and allergy (2008, background): “Problems of consistency and replication are not unique to asthma, but extend to other complex disease”
- STrengthening the REporting of Genetic Association Studies (STREGA)— An Extension of the STROBE Statement (2009, neutral): “have so far been published [12-39], their recommendations differ.”
- Novel celiac disease genetic determinants related to the immune response (2008, background): “We did not genotype additional markers from candidate regions, as our primary aim was to identify additional risk regions rather than to precisely localize the actual causal genetic variant”