Statistical methods for the detection of single nucleotide polymorphisms (SNPs) using new generation genome sequencers

peer-reviewedGenome sequencing includes methods and technologies that are used for determining the order of nucleotides (A, T, C or G) along a DNA sequence. A single nucleotide polymorphism or SNP is a DNA sequence variation occurring when a single nucleotide in the genome differs within population members. Initially, we consider a particular site under a model where there are just two possible alleles. The following results can be then adapted to the case in which all four possible alleles (variants) may occur. The most common (rare) allele is termed the major (minor) allele respectively