RBCeq

RBCeq interprets next-generation sequencing (NGS) data to predict human blood group genotypes and identify known, novel, and rare blood group variants across 36 blood group systems, including two transcription factors, to support transfusion compatibility.

Key Features:

• Comprehensive Blood Group Profiling: Profiles genomic data across 36 blood group systems, including two transcription factors.
• NGS-based Genotyping: Processes next-generation sequencing (NGS) data to derive blood group genotypes.
• Variant Detection: Detects small genetic alterations such as insertions/deletions (indels) and copy number variants (CNVs).
• Antigen Variant Integration: Integrates manually curated antigen-variant databases to report known, novel, and rare blood group variants.

Scientific Applications:

• Transfusion Medicine: Enables precise blood typing from genomic data to inform transfusion compatibility and reduce alloimmunization risk.
• Hematology Research: Supports characterization of blood group polymorphisms and discovery of novel antigen variants.

Methodology:

Employs a novel bioinformatics algorithm that integrates manually curated antigen-variant databases, processes NGS data, and detects indels and CNVs; validated on 403 samples (including complex serology cases from Australian Red Cross LifeBlood, samples from The MedSeq Project, and Indigenous Australian participants) with 99.83% concordance to International Society for Blood Transfusion data.