Genome Variation Map: a platform for the analysis and integration of genomic variation

Area of Science:

• Genomics
• Bioinformatics
• Population Genetics

Background:

• The Genome Variation Map (GVM) is a crucial public repository for genetic variation data.
• Previous versions have provided valuable, but limited, datasets for researchers.

Purpose of the Study:

• To present a significantly enhanced version of the GVM, integrating diverse, high-quality DNA resequencing data.
• To introduce novel analytical tools and data aggregation pipelines for comprehensive genomic variation analysis.

Main Methods:

• Integration of ~2.14 billion standardized variants from 73 species.
• Consolidation of curated, user-submitted, and archived data via a public variant aggregation pipeline.
• Implementation of new modules for deleterious variant annotation and population genetic selection signals.

Main Results:

• The GVM now archives 898 genetic variation projects from 79 species, contributed by 180 organizations.
• Development of comprehensive reference variant sets for multiple organisms.
• Introduction of online tools for population-specific haplotype analysis and genome assembly cross-mapping.

Conclusions:

• The enhanced GVM is an essential resource for archiving and utilizing genomic variation data.
• This updated repository will accelerate advancements in evolutionary biology, disease etiology research, and agricultural genomics.