Genotyping has expanded the number of blood group antigens that can be readily typed, but it often represents a large additional testing cost. In addition, most currently available genotyping assays only target a limited number of antigens and therefore full typing of the >300 blood group is not possible. Genotyping from next generation sequencing data can in theory be used to genotype for all antigens with a known genetic basis, but early attempts required lengthy subject matter expert analysis. In addition, this manual analysis is likely error prone and not scalable for full evaluation of all 46 blood group associated genes which contain more than 2000 known antigenic allelic variants, including many structural variations. We recently developed automated software (bloodTyper) which can fully determine all genetically understood blood group antigens from whole genomes, whole exomes, and targeted next generation sequencing. Furthermore, bloodTyper was recently expanded to evaluate a cost-effective high density DNA array that targets all known blood group antigens, allowing for full blood group antigen genotyping in over 8,000 blood donors.
Blood Group Genotyping from High Density Arrays to Whole Genomes
Bill Lane, MD, PhD, Brigham and Women's Hospital, Boston, MA, USA
Objectives:
- Describe the major genetic changes underlying the most commonly tested blood group antigens.
- Describe the pros and cons between available genotyping methodologies.
- Describe how genotyping can be used to effectively determine blood groups antigens in both donors and recipients.
Duration: 1.00 hr
Recording Date: November 8, 2019
CME/CMLE credit: 1.00 hr
Last day to purchase course and CE claim credit: December 24, 2022
