Fig. 1.

Details of the experimental methods used for both validation and discovery cohorts. A The validation cohort was selected for a mixture of confirmed clinical diagnoses and both WB and DBS sources. The discovery cohort comprised 9 dB and 12 WB samples. B Samples were prepared for sequencing according to DNA source and sequenced on a MinION mk1b instrument. The resulting sequencing reads were processed locally using a pipeline designed to identify constitutional variants in the β-globin gene. SCH = Sickle Cell Heterozygote, B + TH = Beta Thalassaemia Heterozygote, BTI = Beta Thalassaemia Intermedia, SCD = Sickle Cell Disease