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- Title
Quantifying uncertainty in genotype calls.
- Authors
Carvalho, Benilton S.; Louis, Thomas A.; Irizarry, Rafael A.
- Abstract
Motivation: Genome-wide association studies (GWAS) are used to discover genes underlying complex, heritable disorders for which less powerful study designs have failed in the past. The number of GWAS has skyrocketed recently with findings reported in top journals and the mainstream media. Microarrays are the genotype calling technology of choice in GWAS as they permit exploration of more than a million single nucleotide polymorphisms (SNPs) simultaneously. The starting point for the statistical analyses used by GWAS to determine association between loci and disease is making genotype calls (AA, AB or BB). However, the raw data, microarray probe intensities, are heavily processed before arriving at these calls. Various sophisticated statistical procedures have been proposed for transforming raw data into genotype calls. We find that variability in microarray output quality across different SNPs, different arrays and different sample batches have substantial influence on the accuracy of genotype calls made by existing algorithms. Failure to account for these sources of variability can adversely affect the quality of findings reported by the GWAS.
- Subjects
GENOMICS; DNA microarrays; ALGORITHMS; GENETIC polymorphisms; NUCLEOTIDES
- Publication
Bioinformatics, 2010, Vol 26, Issue 2, p242
- ISSN
1367-4803
- Publication type
Article
- DOI
10.1093/bioinformatics/btp624