MamPhEA

MamPhEA performs enrichment analysis of mammalian gene sets using phenotypic data from mouse mutants to elucidate gene function, including analyses restricted to phenotypes caused by null mutations.

Key Features:

• Enrichment analysis: Performs enrichment analysis of gene sets against phenotype annotations derived from mouse mutants.
• Mouse mutant phenotypes: Utilizes phenotypic data from mouse mutants, explicitly including annotations for null mutations.
• Predefined and custom phenotypes: Supports analysis of both predefined phenotype sets and user-defined custom phenotypes.
• Null-mutation filtering: Offers the ability to restrict analyses to phenotypes resulting specifically from null mutations.
• Cross-mammalian support: Enables analyses across mammalian species with fully sequenced genomes.
• Gene-phenotype association detection: Integrates gene sets with phenotypic annotations to identify significant associations between genes and observed phenotypes.

Scientific Applications:

• Functional annotation: Annotates and elucidates functional properties of mammalian gene sets based on mouse phenotypes.
• Gene function inference: Infers potential gene functions from phenotypic outcomes of mutations in mouse models.
• Disease mechanism investigation: Provides insights into mammalian genetics and disease mechanisms through genotype-phenotype associations.
• Comparative and evolutionary studies: Facilitates comparative analyses and evolutionary biology inquiries across fully sequenced mammalian genomes.

Methodology:

Integrates phenotypic annotations from mouse mutants (optionally filtered for null mutations) with input gene sets to perform enrichment analysis and identify significant gene-phenotype associations.