Computational verification of published human mutations

The completion of the Human Genome Project, a remarkable feat by any measure, has provided over three billion bases of reference nucleotides for comparative studies. The next, and perhaps more challenging step is to analyse sequence variation and relate this information to important phenotypes. Most human sequence variations are characterized by structural complexity and, are hence, associated with abnormal functional dynamics. This thesis covers the assembly of a computational platform for verifying these variations, based on accurate, published, experimental data.

Grantor dc:publisher.institution

University of the Western Cape

Year dc:date.issued

2008

Author dc:creator

• Kamanu, Frederick Kinyua

Advisors dc:contributor.advisor

• Lehväslaiho, Heikki
• Bajic, Vladimir

• Bioinformatics
• Human variation
• Relational database
• Database development
• Mutation verification
• Mutation checker
• MutRes