DGVa

DGVa archives and distributes publicly accessible genomic structural variants across multiple species to support analysis of genetic diversity, disease-related variation, and comparative studies.

Key Features:

• Archiving and accessioning: Archives genomic structural variants and assigns accessioned records for public distribution and reference.
• Submission sources: Processes direct submissions from researchers and curates data from published literature.
• Multi-species coverage: Contains contributions from over 100 studies spanning 11 organisms.
• Human dataset composition: Includes human data from control and case populations as well as tumor samples.
• Curated aggregated studies: Hosts three extensive curated studies that amalgamate information from multiple sources.
• Data model improvements: Implements an updated data model and data representation for variant records.
• Distribution: Provides public distribution of accessioned variant datasets for analysis and reuse.

Scientific Applications:

• Population genetics: Enables analysis of genetic diversity and population-level structural variation across species.
• Disease genomics: Supports comparison of control versus case cohorts and analysis of tumor-associated structural variants.
• Comparative genomics: Facilitates cross-species comparisons of structural variant landscapes.
• Meta-analysis and curation: Allows aggregation and reanalysis of data from multiple studies through curated composite datasets.

Methodology:

Processes include accepting direct researcher submissions and literature curation, accessioning and distribution of variant records, and use of an updated data model and data representation.