InvFEST

InvFEST catalogs human polymorphic inversions by integrating predictions and annotations to provide a non-redundant resource for analyzing inversion breakpoints, population frequencies, functional effects, and associations with genes and segmental duplications.

Key Features:

• Integration of Multiple Data Sources: Amalgamates data from 34 distinct studies to produce a consolidated, non-redundant catalogue of human polymorphic inversions.
• Breakpoint Refinement: Automatically refines inversion breakpoint locations to improve positional precision.
• Experimental Validation: Includes information on experimental validation for candidate inversions.
• Comprehensive Annotations: Provides annotations for population frequency, functional effects, evolutionary history, gene associations, and segmental duplications for each candidate inversion.
• Categorization and Curation: Applies internal scoring systems and manual curation to classify and prioritize inversion calls.

Scientific Applications:

• Genomic Research: Enables exploration of human genome structural variation by providing a curated catalogue of polymorphic inversions.
• Functional Genomics: Supports investigation of how inversions affect gene function and regulatory elements through annotated functional effects.
• Population Genetics: Facilitates analysis of inversion population frequencies and distributions across human populations.
• Evolutionary Biology: Provides data for studying the evolutionary history and dynamics of inversions in the human lineage.

Methodology:

Amalgamates predictions from multiple studies to create a non-redundant catalogue and automatically refines breakpoint locations, with inversion classification based on internal scoring systems.