InvFEST, a database integrating information of polymorphic inversions in the human genome

Area of Science:

• Genomics
• Human Genetics
• Bioinformatics

Background:

• Genomic advances reveal extensive structural variations, including inversions.
• High false-positive rates complicate accurate identification of human inversions.
• A centralized, reliable resource for human inversions is needed.

Purpose of the Study:

• To create InvFEST, a comprehensive database of non-redundant human polymorphic inversions.
• To integrate diverse data sources for accurate inversion identification and characterization.
• To provide a user-friendly platform for accessing inversion data and associated information.

Main Methods:

• Integrated data from 34 studies to catalogue human inversions.
• Developed algorithms to merge predictions, refine breakpoints, and identify gene/duplication associations.
• Included experimental validation, population frequency, functional effects, and evolutionary data.

Main Results:

• InvFEST currently contains 1092 candidate inversions.
• Inversions are categorized using internal scores and manual curation.
• Provides detailed web reports for each inversion, including validation and population data.

Conclusions:

• InvFEST offers the most reliable set of human inversions to date.
• Serves as a central repository for sharing information and guiding future research.
• Facilitates analysis of the functional and evolutionary impact of inversions on the human genome.