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MultiGEN Diagnostics

Human Genetic Predisposition

With the completion of the Human Genome Project, increasingly more genetic markers are identified with various diseases. Often these are single mutations (SNPs). Although our genome carries about 3.1 billion nucleotides with an SNP in every ~ 300 nucleotides, not all of them are associated with diseases. Therefore it is critical that changes (mutations) in those specific SNPs are detected accurately by DNA sequencing. In doing so, the most accurate method to detect an SNP is DNA sequencing, where the locus of the SNP is confirmed by the nucleotide sequences either side of the mutation. Further, a particular condition may be determined by SNPs far apart in the human DNA. In order to reduce the cost of  determining unnecessary DNA sequences, MultiGEN only determines short stretches of DNA that encompass the SNP.