BGvar

BGvar provides a curated, genome-ready compendium of human blood group alleles to support characterization and interpretation of individual blood group profiles from genomic datasets.

Key Features:

• Extensive Allelic Coverage: BGvar includes 1672 ISBT-approved alleles and an additional 1552 alleles predicted and curated from literature reports, covering variants across 41 recognized blood group systems and two transcription factors.
• Diverse Genetic Variants: The database catalogs 1606 Single Nucleotide Variations (SNVs), 270 Insertions, Deletions (InDels) and Duplications, approximately 1310 combination mutations, and gene fusion and rearrangement events relevant to human blood group genes.
• Phenotypic and Clinical Relevance: BGvar integrates phenotype details and clinical significance derived from reported literature evidence for included alleles.
• Global Population Data: The resource annotates allele frequencies across global populations using multiple public datasets.

Scientific Applications:

• Genomic Characterization: Facilitating genomic characterization of individual blood groups from genomic datasets to inform immunogenetic analysis.
• Research and Development: Enabling research into the genetic basis of blood group variation and its implications for health and disease.
• Clinical Decision-Making: Informing transfusion medicine and clinical interpretation by providing allele-level genetic and phenotypic information.

Methodology:

Data were compiled through systematic collection and manual curation from literature and public datasets, with public-dataset-based allele frequency annotation and integration of reported literature evidence for phenotypic and clinical annotations.