DNA SEQUENCING DEVICE AND SINGLE NUCLEOTIED POLYMORPHISM DETERMINATION METHOD THEREOF

摘要

According to the present invention, an SNP detection method using a DNA sequencing device includes the steps of: sampling some of the total read sequences, as input sequences, with respect to a predetermined location on a reference genome sequence; calculating a likelihood matrix by using the sampled input sequences and the reference genome sequences; calculating posterior probability based on the calculated matrix and the reference genome sequence; and detecting the predetermined location with SNP after determining a genotype based on the calculated posterior probability.