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Overcoming the challenges of interpreting complex and uncommon RH alleles from whole genomes

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Rh is one of the most diverse and complex blood group systems. Recently, next generation sequencing (NGS) has proven to be a viable option for RH genotyping. We have developed… Click to show full abstract

Rh is one of the most diverse and complex blood group systems. Recently, next generation sequencing (NGS) has proven to be a viable option for RH genotyping. We have developed automated software (bloodTyper) for determining alleles encoding RBC antigens from NGSā€based whole genome sequencing (WGS). The bloodTyper algorithm has not yet been optimized and evaluated for complex and uncommon RH alleles.

Keywords: complex uncommon; alleles whole; challenges interpreting; overcoming challenges; interpreting complex; uncommon alleles

Journal Title: Vox Sanguinis
Year Published: 2020

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