RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

ABSTRACT:

Background

While blood transfusion is an essential cornerstone of hematological care, patients requiring repetitive transfusion remain at persistent risk of alloimmunization due to the diversity of human blood group polymorphisms. Despite the promise, user friendly methods to accurately identify blood types from next-generation sequencing data are currently lacking. To address this unmet need, we have developed RBCeq, a novel genetic blood typing algorithm to accurately identify 36 blood group systems.

Methods

RBCeq can predict complex blood groups such as RH, and ABO that require identification of small indels and copy number variants. RBCeq also reports clinically significant, rare, and novel variants with potential clinical relevance that may lead to the identification of

SUBMITTER: Jadhao S 

PROVIDER: S-EPMC8763639 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature