The invention discloses an ABO
blood type system typing method based on
sequencing data and application thereof. The method according to the invention comprises the steps of analyzing sequencing dataof a to-be-tested sample by means of a reference sequence and a Bayes classification training
data set, and particularly, comparing the
sequencing data of the to-be-tested sample for obtaining position and variation information relative to the reference sequence; according to the compared reads information, for each
exon, performing assembling overlapping and using the reads with consistent overlapping sequence as a
haplotype; according to the number of support reads and coverage
score, taking out the
haplotype according to the
score from highest to lowest, and constructing a candidate
haplotype; performing arrangement combination on the variations of all candidate haplotypes, performing scoring based on no contradiction of a distance between the haplotype obtained through arrangement combination and the haplotype in a
database, the P value of Bayes classification, the number of support reads and the type, and selecting two haplotypes with highest scores as the final ABO
blood type ofthe to-be-tested sample. The method of the invention has advantages of improving
blood type typing accuracy, analyzing potential new blood types and performing large-batch analyzing.