Base mutation detection method and apparatus based on sequencing data, and storage medium
AssigneeBgi Genomics Co., Ltd.
InventorsSiyang LIU, Shujia HUANG, Xin JIN
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AssigneeBgi Genomics Co., Ltd.
InventorsSiyang LIU, Shujia HUANG, Xin JIN
Estimating the term…
Provided is a base mutation detection method, which includes: determining an initial frequency of sequencing data of samples being a specific base at an interested locus; calculating, based on the initial frequency, an expected value of each sample being the specific base at the interested locus; updating the initial frequency of the sequencing data of the samples being the specific base at the interested locus; further calculating the expected value of each sample being the specific base at the interested locus, further updating the initial frequency of the sequencing data of the samples being the specific base at the interested locus, and repeating the foregoing iteration until the expected value of each sample 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 sample.
A base mutation detection method based on sequencing data, the base mutation detection method comprising:
A base mutation detection apparatus based on sequencing data, the base mutation detection apparatus comprising:
Dependencies are inferred from the claim text.