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Computational verification of published human mutations
(University of the Western Cape, 2008)
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 ...
The development of a single nucleotide polymorphism database for forensic identification of specified physical traits
(University of the Western Cape, 2009)
Many Single Nucleotide Polymorphisms (SNPs) found in coding or regulatory regions within the human genome lead to phenotypic differences that make prediction of physical appearance, based on genetic analysis, potentially ...
SNP based literature and data retrieval
(University of the Western Cape, 2016)
Reference single nucleotide polymorphism (refSNP) identifiers are used to earmark SNPs in the human genome. These identifiers are often found in variant call format (VCF) files. RefSNPs can be useful to include as terms ...