Browsing by Author "Rajapaksa, S."

Filter results by typing the first few letters
Now showing 1 - 2 of 2
  • No Thumbnail Available
    Item
    The Molecular basis for the thalassaemias in Sri Lanka
    (Wiley-Blackwell, 2003) Fisher, C.A.; Premawardhena, A.P.; de Silva, S.; Perera, G.; Rajapaksa, S.; Olivieri, N.A.; Old, J.M.; Weatherall, D.J.; Sri Lanka Thalassaemia Study Group
    The beta-globin gene mutations and the alpha-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed. Twenty-four beta-globin gene mutations were identified, three accounting for 84.5% of the 1240 alleles studied: IVSI-5 (G-->C) 56.2%; IVSI-1 (G-->A) 15.2%; and haemoglobin E (codon (CD)26 GAG-->GAA) 13.1%. Three new mutations were found; a 13-bp deletion removing the last nucleotide in CD6 to CD10 inclusively, IVSI-129 (A-->C) in the consensus splice site, and a frame shift, CD55 (-A). The allele frequency of alpha+ thalassaemia was 6.5% and 1.1% for -alpha3.7 and -alpha4.2 deletions respectively. Non-deletion alpha-thalassaemia was not observed. Triplicate or quadruplicate alpha-globin genes were unusually common. In 1.5% of cases it was impossible to identify beta-thalassaemia alleles, but in Kurunegala detailed family studies led to an explanation for the severe thalassaemia phenotype in every case, including a previously unreported instance of homozygosity for a quadruplicated alpha-globin gene together with beta-thalassaemia trait. These findings have implications for the control of thalassaemia in high-frequency populations with complex ethnic histories.
  • Thumbnail Image
    Item
    A Scalable Bioinformatics Analysis Platform based on Microservices Architecture
    (IEEE International Research Conference on Smart computing & Systems Engineering (SCSE) 2019, Department of Industrial Management, Faculty of Science, University of Kelaniya, Sri Lanka, 2019) Rajapaksa, S.; Wickramarachchi, A.; Mallawaarachchi, V.; Rasanjana, W.; Perera, I.; Meedeniya, D.
    With the advancement of technologies, web services play a significant role to maintain infrastructure in healthcare domain due to the increasing demand of performance. In such systems, adoption of novel technologies is necessary to increase the productivity and reduce the burden of maintenance associated with legacy systems. Microservices architecture has become prominent in deploying server-side enterprise applications by allowing maintainable functionalities. However, it is challenging to utilize microservices in the domain of bioinformatics, although it enables independent process execution and maintenance. This paper introduces the utilization of microservices architecture to build an optimized platform for bioinformatics analyses. We present a hybrid architecture that consists of different hardware platforms to execute accelerated computational services, independently. The core communication is based on an Application Programming Interface (API) gateway. Furthermore, the paper presents the evaluation of results related to the performance of the proposed solution under varying biological sequences as inputs and algorithms