title: An analysis pipeline for genome-wide association studies.
abstract: We developed an efficient pipeline to analyze genome-wide association study single nucleotide polymorphism scan results. Purl scripts were used to convert genotypes called using the BRLMM algorithm into a modified PB format. We computed summary statistics characteristic of our case and control populations including allele counts, missing values, heterozygosity, measures of compliance with Hardy-Weinberg equilibrium, and several population difference statistics. In addition, we computed association tests, including exact tests of association for genotypes, alleles, the Cochran-Armitage linear trend test, and dominant, recessive, and over dominant models at every single nucleotide polymorphism (SNP). In addition, pairwise linkage disequilibrium statistics were elaborated, using the command line version of HaploView, which was possible by writing a reformatting script. Additional Perl scripts permit loading the results into a MySQL database conjoined with a Generic Genome Browser (gbrowse) for comprehensive visualization. This browser incorporates a download feature that provides actual case and control genotypes to users in associated genomic regions. Thus, re-analysis "on the fly" is possible for casual browser users from anywhere on the Internet.
authors.affiliation: Human Genetics Section, Laboratory of Experimental Immunology, National Cancer Institute at Frederick, Frederick, MD 21702, USA.
authors.forename: Stefan
authors.initials: S
authors.lastname: Stefanov
authors.forename: James
authors.initials: J
authors.lastname: Lautenberger
authors.forename: Bert
authors.initials: B
authors.lastname: Gold