Single nucleotide polymorphisms (SNPs) are major contributors to genetic variation, comprising approximately 80% of all know polymorphisms, and their density in the human genome is estimated to be on average 1 per 1000 base pairs. Although SNPs are mostly biallelic (less informative than short tandem repeats), they are more frequent and mutationally stable, making them suitable for association studies in which linkage disequilibrium (LD) between markers and an unknown variant is used to map disease-causing mutations.
The CEQ™ 8000 software provides automated sizing and allele calling from single or multiplexed SNP products. The software utilizes a mechanism similar to that for STR loci to analyze SNP. The analyzed SNP genotypes are summarized and reported in fragment list through automated SNP locus tag assignment with a high degree of accuracy.
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