Article
Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting.
Transfusion - 1 Feb 2018
Schoeman Elizna M, Roulis Eileen V, Liew Yew-Wah, Martin Jacqueline R, Powley Tanya, Wilson Brett, Millard Glenda M, McGowan Eunike C, Lopez Genghis H, O'Brien Helen, Condon Jennifer A, Flower Robert L, Hyland Catherine A
Abstract excerpt
BACKGROUND: We previously demonstrated that targeted exome sequencing accurately defined blood group genotypes for reference panel samples characterized by serology and single-nucleotide polymorphism (SNP) genotyping. Here we investigate the application of this approach to resolve problematic serology and SNP-typing cases. STUDY DESIGN AND METHODS: The TruSight One sequencing panel and MiSeq platform was used for...
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