Sequencer
RBCeq is an integrated bioinformatics software to characterize blood group profiles from genomics data. The software uses manually curated, in-house database of antigen variants and reports known, novel and rare blood group variants from Next-Generation Sequencing (NGS) datasets. RBCeq is fully automated and allows seamless analysis and visualization through user friendly interface.
RBCeq provides a new basis for pre-transfusion testing by assisting immunohematology laboratories with fast and accurate extended blood group genotyping and phenotyping across populations.
The webserver to provide blood group genotyping of known and potentially novel alleles. The webserver runs on AWS and scalable. The accuracy of the algorithm is validated by comparing its output to serology-based data. RBCeq predicts the complete blood group profile along with the complex Rh system phenotype in 2.26 minutes for a sample (with ~54K SNPs and ~3.1 million paired reads).
The phenotype and genotype of each blood group calls are supported with consideration for read depth and zygosity. It provides output of known BGs in a tabular format where the first column is the blood group phenotype, and subsequent columns represent allele name, SNP position in the genome, zygosity, read depth, and allele frequency. Clinically significant, rare, and potentially novel allele annotation is also provided in a tabular format, with SNP location, coding position, gene name, dbSNPid, and allele frequencies in different population (AFR:African, AMR:American, ASJ: Ashkenazi Jewish, EAS:East Asian, FIN:Finland, NFE: Non-Finnish European, SAS: South Asian, OTH:Other).
RBCeq webserver is designed to accommodate unlimited users with scalable data storage and jobs control for each user. RBCeq runs on AWS providing scalability for future improvements and large scale batch processing. Custom-tailored and interactive visualization in RBCeq will illustrate the Blood Group level phenotype, variants and coverage with easy to download reporting in few clicks. With this user-friendly interface and illustrative visualization, it is ready-to-use for the Immunohematology laboratories and Red cell reference laboratory facilities.
