FIRST LOOK: bloodTyper: Blood Group Typing using Next Generation Sequencing

Blood transfusion is one of the most common therapies administered in US hospitals, but sensitization to red blood cell (RBC) and platelet (PLT) antigens can lead to serious complications in prenatal medicine and transfusion. Although there are over 300 known RBC and 33 PLT antigens, current testing only includes matching the patient and donor for ABO and RhD antigens using methods that have not materially changed for over 60 years, despite not always distinguishing important changes.

Click here to watch Dr. Lane’s First Look presentation.

Next generation sequencing (NGS), such as whole exome sequencing (WES) and whole genome sequencing (WGS), could improve antigen typing. However, without computerized algorithms capable of interpreting the NGS data, the translation to antigen phenotype is laborious, time-intensive, and requires deep subject matter expertise. To address this, we created a curated database of RBC and PLT antigen molecular changes (, followed by development of an automated NGS antigen typing software called bloodTyper (, which we intend to commercialize.

bloodTyper was initially validated using 110 WGS samples, with perfect concordance to conventional serologic typing. We have also developed a targeted NGS ABO assay and updated bloodTyper to distinguish between ABO subtypes, with implications for stem cell and organ transplantation. bloodTyper has also been adapted to analyze an inexpensive SNP array being developed in collaboration with University of Cambridge and Thermo-Fisher to be marketed as a routing test for every blood donation. In collaboration with Cambridge we are also planning to improve bloodTyper using 100,000s of results from several large-scale genomics projects.

bloodTyper could routinely be used at low cost on anyone undergoing genomic sequencing, which in the future could be everyone.

For more information about Dr. Lane’s research, please contact Partners HealthCare Innovation by clicking here.

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