User guide

GPSEA allows users to perform many different kinds of genotype-phenotype correlation (GPCs) analysis. See the Tutorial for an introduction. In general, the analysis will include steps for data input, exploration of the cohort to assist in generating hypotheses about potential GPCs to test, corresponding choice of genotype and phenotype predicates to perform the test, choice of statistical test, and approach to multiple-testing correction (mtc). The pages shown in the table of contents provide more information about each step.

Contents:

• Input data
• Cohort exploratory analysis
• Predicates
• Statistical tests
• Multiple-testing correction
• Glossary
• Genotype-Phenotype Correlations in Autosomal Recessive Diseases