Journal: BMC Genomics

Article Title: Using DNA testing for the precise, definite, and low-cost diagnosis of sickle cell disease and other Haemoglobinopathies: findings from Tanzania

doi: 10.1186/s12864-021-08220-x

Figure Lengend Snippet: 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

Article Snippet: We show that single-molecule long-read sequencing, such as that offered by the MinION platform (Oxford Nanopore Technologies, Oxford, UK) enables the identification of SCD and other haemoglobin variants as well as the resolution of complex genetics that cannot be readily identified by HPLC and IEF.

Techniques: Biomarker Discovery, Sequencing

Journal: Genes

Article Title: RNA Modifications in Pathogenic Bacteria: Impact on Host Adaptation and Virulence

doi: 10.3390/genes12081125

Figure Lengend Snippet: Summary of main techniques for the detection of RNA modifications.

Article Snippet: Noteworthy, the very recent development of single molecule direct RNA sequencing method by Oxford Nanopore Technologies (ONT, Oxford, UK), is promising for the analysis of modification landscape on a specific RNA sequence, including Ψs [ , , , ].

Techniques: Genome Wide, Cryo-Electron Microscopy, Nuclear Magnetic Resonance, Quantitative Proteomics, In Vitro, DNA Sequencing, RNA Sequencing, Software, Bisulfite Sequencing, Methylation, Nucleic Acid Electrophoresis