1. What is RBCeq?

RBCeq is a user-friendly cloud-based application which automates the blood group genotyping and phenotyping process from genomics data. The framework is comprised of a customised database of antigen variants, an automated blood group genotyping algorithm, rich visualization, and report generation capabilities for the blood groups antigen alleles. It also includes listings of variants that may be possible novel or rare variants with no current blood group phenotype association.

2. What type of input files are required for RBCeq?

• VCF   (https://samtools.github.io/hts-specs/VCFv4.2.pdf)
• Coverage bed file of blood group genes (For details please follow manual).

3. How can I prepare input bed coverage file for RBCeq with Windows Remote Desktop?

To generate bed coverage file on windows, download BAMTrimmer tool from RBCeq website.

4. How to interpret RBCeq output?

The complete RBCeq output is divided into six sections

• Overall Summary
• Blood Group Change Summary
• Per Blood Group Variants
• Rh Coveragestat
• Known Blood Group Allele
• 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 Novel Variants
• Clinically significant, rare, and potentially novel allele annotation is provided in a tabular format, with SNP location, coding position, gene name, dbSNPid, and 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).

5. What is My Jobs?

My jobs tab will direct you to your all recent jobs which you have run in RBCeq. The jobs which are older than six months will be deleted from RBCeq my jobs