Computational protocol: The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study

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Protocol publication

[…] The data were analysed using the R programming language (version 3.2.4). The analysis included data manipulation, filtering and plotting using the R packages tidyr, dplyr and ggplot2. Descriptive statistics were utilised for the analysis, particularly to calculate mutation frequencies for haemoglobinopathies in Cyprus and in individual districts. In addition, the one-sample proportions test (Wilson score) with Yates’ continuity correction was utilised to calculate 95% confidence intervals (95% CI), using the prop.test function in R. […]

Pipeline specifications

Software tools dplyr, Ggplot2
Application Miscellaneous
Organisms Homo sapiens
Diseases Anemia, Sickle Cell