METHOD, SYSTEM, AND COMPUTER READABLE MEDIUM FOR DETERMINING BASE INFORMATION OF PREDETERMINED AREA IN FETAL GENOME

摘要

A method, a system, and a computer readable medium for determining base information of a predetermined area in a fetal genome are provided. The method for determining base information of a predetermined area in a fetal genome comprises the following steps: obtaining a sequencing result of a DNA sample of a genome of an embryo cell, and a sequencing result of a genome sample of an individual related to embryo heredity; constructing a heredity sketch of the embryo based on the sequencing result of the DNA sample of the genome of the embryo cell, to determine an initial genotype of the embryo; determining haplotypes of parents of the embryo based on the sequencing result of the genome sample of the individual related to the embryo heredity; and using the initial genotype of the embryo as an observation sequence according to the hidden markov model, and determining the base information of the predetermined area in the fetal genome based on the haplotypes of the parents of the embryo.