Testing SNPs and sets of SNPs for importance in association studies
نویسندگان
چکیده
منابع مشابه
Meta-analysis of genetic association studies and adjustment for multiple testing of correlated SNPs and traits.
Meta-analysis has become a key component of well-designed genetic association studies due to the boost in statistical power achieved by combining results across multiple samples of individuals and the need to validate observed associations in independent studies. Meta-analyses of genetic association studies based on multiple SNPs and traits are subject to the same multiple testing issues as sin...
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While the human genome is 99.9% conserved the remaining 0.1% gives rise to a surprising amount of diversity. About 80% of this sequence divergence is in the form of single-nucleotide polymorphisms (SNPs) or single nucleotide substitutions that occur in at least 1% of the human population. The presence of such variants or alleles does not, in itself, provide a high degree of variability in the h...
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The Functional Single Nucleotide Polymorphism (F-SNP) database integrates information obtained from 16 bioinformatics tools and databases about the functional effects of SNPs. These effects are predicted and indicated at the splicing, transcriptional, translational and post-translational level. As such, the database helps identify and focus on SNPs with potential deleterious effect to human hea...
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Although prospective logistic regression is the standard method of analysis for case-control data, it has been recently noted that in genetic epidemiologic studies one can use the "retrospective" likelihood to gain major power by incorporating various population genetics model assumptions such as Hardy-Weinberg-Equilibrium (HWE), gene-gene and gene-environment independence. In this article, we ...
متن کاملATRIUM: testing untyped SNPs in case-control association studies with related individuals.
In genome-wide association studies, only a subset of all genomic variants are typed by current, high-throughput, SNP-genotyping platforms. However, many of the untyped variants can be well predicted from typed variants, with linkage disequilibrium (LD) information among typed and untyped variants available from an external reference panel such as HapMap. Incorporation of such external informati...
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ژورنال
عنوان ژورنال: Biostatistics
سال: 2010
ISSN: 1465-4644,1468-4357
DOI: 10.1093/biostatistics/kxq042