Method, system and computer readable medium for determining base information in predetermined area of fetus genome

摘要

Provided are a method, system and computer readable medium for determining the base information in a predetermined area of a fetus genome, the method comprising the following steps: constructing a sequence library for the DNA samples of the fetus genome; sequencing the sequence library to obtain the sequencing result of the fetus, the sequencing result of the fetus comprised of a plurality of sequencing data; and based on the sequencing result of the fetus, determining the base information in the predetermined area according to the hidden Markov model in conjunction with the genetic information of an individual related hereditarily to the fetus.