US 12,272,430 B2
Base mutation detection method and apparatus based on sequencing data, and storage medium
Siyang Liu, Guangdong (CN); Shujia Huang, Guangdong (CN); and Xin Jin, Guangdong (CN)
Assigned to BGI GENOMICS CO., LTD., Shenzhen (CN)
Filed by BGI GENOMICS CO., LTD., Guangdong (CN)
Filed on Nov. 10, 2021, as Appl. No. 17/522,920.
Application 17/522,920 is a continuation of application No. PCT/CN2019/086972, filed on May 15, 2019.
Prior Publication US 2022/0068437 A1, Mar. 3, 2022
Int. Cl. G16B 40/00 (2019.01); G06N 7/01 (2023.01); G16B 20/20 (2019.01)
CPC G16B 40/00 (2019.02) [G06N 7/01 (2023.01); G16B 20/20 (2019.02)] 15 Claims
OG exemplary drawing
 
1. A base mutation detection method based on sequencing data, the base mutation detection method comprising:
determining an initial frequency of sequencing data of a plurality of samples to be detected being a specific base at an interested locus;
calculating, based on the initial frequency, an expected value of each of the plurality of samples to be detected being the specific base at the interested locus;
updating, by using each expected value, the initial frequency of the sequencing data of the plurality of samples to be detected being the specific base at the interested locus;
further calculating, by using the updated initial frequency, the expected value of each of the plurality of samples to be detected being the specific base at the interested locus, further updating, by using each new expected value, the initial frequency of the sequencing data of the plurality of samples to be detected being the specific base at the interested locus, and repeating the foregoing iteration until the expected value of each of the plurality of samples to be detected being the specific base at the interested locus converges; and
determining, based on each converging expected value, a base mutation type and a mutation confidence at the interested locus of each of the plurality of samples to be detected,
wherein the specific base comprises an adenine A base, a thymine T base, a cytosine C base, or a guanine G base.