Results and Conclusion

The results of the study are presented in a clear and satisfactory manner in the form of tables that are well explained. The results answer each hypothesis and meet the aims of the study as was outlined in the introduction. The results are satisfactory and vigorous because they involved a thorough genetical analysis using different techniques with both internal and external controls. According to Kamps-Hughes et al. (2013), ClaI digestion technique is an enzyme restriction method which is reliable and accurate in genetic analysis of DNA. The use of the technique by the researchers, therefore, authenticates the results. The identification of cohorts based on their disease status and not their parents genetical make-up also reduced the selection bias and other systematic errors that could have influenced the quality of the results. The results are also coherent with the results of other studies (Bouchireb et al. 2014). The In summary, the outcome of the study addresses the aims of the study. The conclusion that common variant can be implicated in rare monogenic diseases is based on the findings of the research.

Relevance, Implications and Future Research

The study provides new evidence-based information to the field of genetic disorders by expanding on the role of common variants in the inheritance of rare monogenic diseases. The information provided by this study is also crucial for the management of genetic disorders and in preventing the inheritance of the diseases. Paediatricians are, therefore, able to understand the genetic background of the different clinical manifestations of the disease in children. The article also assists paediatricians in establishing an accurate medical diagnosis of the condition in children. Based on the information provided by this study, carrier parents for the disease can be identified and genetically counselled.

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