DNA Sequencing Analysis Framework for ABO Genotyping and ABO Discrepancy Resolution

Precise identification is needed to avoid the transfusion reaction leading to death from ABO incompatibility. However, some rare blood groups including subgroups, paraBombay or Bombay phenotypes may show weak or no agglutination reaction resulting in misidentification. Genotyping is a method of choice which can identify blood group in the allele level. Although DNA sequencing is a medium-throughput technique, it is time-consuming and large data is generated. In this work, DNA sequencing analysis framework was proposed objected to provide a reliable method and tools for blood group confirmation process in routine transfusion service laboratory. The framework comprises 2 main sections. First, chromatogram data preprocessing includes quality check, overlapping peak translation, and reference gene alignment Second part is SNPs detection and analysis for ABO subgroup phenotype alleles identification. The evaluation was done with both synthesized and real sequence data from PCR. The algorithm performs at 92.4% accuracy on synthesized dataset and 100% on real dataset. The system was implemented as web based application, available at: https://snp-checking.innogehlalab-cmu.com/.