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 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.

主权项

1. A method of determining base information of a predetermined region in a fetal genome, comprising the following steps:
constructing a sequencing library based on a genomic DNA sample of a fetus; subjecting the sequencing library to sequencing, to obtain a sequencing result of the fetus consisting of a plurality of sequencing data; and determining the base information of the predetermined region based on the sequencing result of the fetus combining with genetic information of a related individual using a hidden Markov Model.