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| == Association Analysis for Rare Variants == * '''Statistical analysis strategies for association studies involving rare variants.''' Bansal V, Libiger O, Torkamani A, Schork NJ. Nat Rev Genet. 2010 Nov;11(11):773-85. Epub 2010 Oct 13. Review. PMID: 20940738 * '''An evaluation of statistical approaches to rare variant analysis in genetic association studies.''' Morris AP, Zeggini E. Genet Epidemiol. 2010 Feb;34(2):188-93. PMID: 19810025 == Gene-set Association Tests for Rare Variants == |
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| * Patient-oriented gene set analysis for cancer mutation data.<<BR>> | == Similar Gene-set Analysis Strategies for Genetics Data == === Cancer Mutations === * '''Patient-oriented gene set analysis for cancer mutation data'''<<BR>> |
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| * It's basically the same idea applied to cancer instead of autism. * However, lacking the control patients (since cancer is high mutation frequency, that would not make sense), they have to define the null hypothesis using randomly placed mutations. * What they call "exclusivity principle" is what I usually call the "OR combination logic" (i.e. at least one perturbed gene for the pathway/gene-set to be perturbed). |
* It's basically the same idea applied to cancer instead of autism. * However, lacking the control patients (since cancer is high mutation frequency, that would not make sense), they have to define the null hypothesis using randomly placed mutations. * What they call "exclusivity principle" is what I usually call the "OR combination logic" (i.e. at least one perturbed gene for the pathway/gene-set to be perturbed). |
Association Analysis for Rare Variants
Statistical analysis strategies for association studies involving rare variants. Bansal V, Libiger O, Torkamani A, Schork NJ. Nat Rev Genet. 2010 Nov;11(11):773-85. Epub 2010 Oct 13. Review. PMID: 20940738
An evaluation of statistical approaches to rare variant analysis in genetic association studies. Morris AP, Zeggini E. Genet Epidemiol. 2010 Feb;34(2):188-93. PMID: 19810025
Gene-set Association Tests for Rare Variants
Similar Gene-set Analysis Strategies for Genetics Data
Cancer Mutations
Patient-oriented gene set analysis for cancer mutation data
Boca SM, Kinzler K, Velculescu VE, Vogelstein B, Parmigiani G.
Genome Biol. 2010 Nov 23;11(11):R112.
http://www.ncbi.nlm.nih.gov/sites/entrez/21092299- It's basically the same idea applied to cancer instead of autism.
- However, lacking the control patients (since cancer is high mutation frequency, that would not make sense), they have to define the null hypothesis using randomly placed mutations.
- What they call "exclusivity principle" is what I usually call the "OR combination logic" (i.e. at least one perturbed gene for the pathway/gene-set to be perturbed).