Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project.
Mattias MöllerÅsa HellbergMartin L OlssonPublished in: Vox sanguinis (2017)
A previously uncharacterized ABO deletion among Africans was comprehensively mapped and a genotyping strategy devised. The false prediction of another deletion emphasizes the need for cautious interpretation of NGS data and calls for strict validation routines.