Gene identification in Caenorhabditis elegans through next generation sequencing

The emergence of Next Generation DNA Sequencing (NGS) technologies has made cloning of genes much more efficient by dramatically reducing the cost, labour and time required. In this work, I have applied a NGS and devised a bioinformatics program pipeline to detect genomics alterations in the mutant strains of the nematode Caenorhabditis elegans. In the first project, I have detected a mutation in tba-5, validated through complementation tests, and proposed a model elucidating the role of TBA-5 in cilia structure. In the second project, the variant detection pipeline is used to isolate potential candidate genes corresponding to various dsh-2(or302) suppressors, namely Sup327, Sup245 and Sup305. Additionally, I have applied the bioinformatics pipeline to confirm that the current C. briggsae reference genome harbours thousands of assembly errors, many of which affect the correct prediction of gene models.