Whole-Exome Sequencing (WES) Analysis for ABO Subgroups Identification

Abstract

Analysis of blood group characteristics using next-generation sequencing can be used to ensure blood transfusion safety. With the aim of avoiding adverse effects in blood transfusions caused by blood group incompatibility, this research studies genomic characteristics of blood groups using whole-exome sequencing analysis. Whole-Exome Sequencing, although time-consuming and data-intensive, provides crucial information for blood group analysis. The research proposes a two-step analysis framework including WES raw data pipeline analysis using GATK, resulting in single nucleotide polymor-phisms and variant information in ABO specific gene, and allele-specific analysis and potential blood group identification. The proposed framework helps identify specific alleles of ABO subgroup based on genomics data which can ensure blood type compatibility in the transfusion process which ultimately leading to improved safety in blood transfusions.