INDIVIDUAL SINGLE NUCLEOTIDE POLYMORPHISMS LOCUS GENOTYPING METHOD AND APPARATUS

摘要

Provided are an individual single nucleotide polymorphisms SNP locus genotyping method and apparatus, the method comprising: acquiring a reads sequence containing SNP locus information; performing sequence alignment of data with outer adapter removed in a target library containing amplified target sequences, to obtain an aligned reads sequence set; extracting base information of to-be-measured loci of all the aligned reads sequence; and genotyping the locus on the basis of the extracted base information of the to-be-measured locus. The loci are genotyped on the basis of the extracted, more specific base information of the to-be-measured loci rather than according to inherent characteristics of the sequence and a statistical probability model, thus directed genotyping of individuals can be realized easily, effectively and more accurately.