| CPC G16B 30/00 (2019.02) [G16B 40/20 (2019.02); G16H 50/20 (2018.01)] | 10 Claims |
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1. A method for determining a pregnancy status of a pregnant woman to be tested, comprising:
collecting peripheral blood of the pregnant women to be tested at a gestational age of 15 to 22 weeks to obtain cell-free DNAs in the peripheral blood;
sequencing the cell-free DNAs to obtain sequencing information of the cell-free DNAs in the peripheral blood of the pregnant woman to be tested;
determining a predetermined parameter of the pregnant woman to be tested, the predetermined parameter comprising expression prediction information of a premature delivery-related gene of the pregnant woman, the expression prediction information of the premature delivery-related gene being obtained through calculation based on the sequencing information of the cell-free nucleic acids in the peripheral blood of the pregnant woman to be tested; and
determining the pregnancy status of the pregnant woman to be tested based on the predetermined parameter and a prediction model,
wherein the prediction model is constructed by:
step 1: constructing a training set and an optional test set, the training set and the optional test set each consisting of a plurality of pregnant woman samples, the pregnant woman samples each having a known pregnancy status, wherein the plurality of pregnant woman samples comprises premature pregnant woman samples and full-term pregnant woman samples;
step 2: determining, for each pregnant woman sample in the training set, a predetermined parameter of the pregnant woman sample, the predetermined parameter comprising differentially expressed gene information of cell-free DNAs in peripheral blood of the pregnant woman sample, the differentially expressed gene information being obtained through calculation based on sequencing information of the cell-free DNAs in the peripheral blood of the pregnant woman sample; and
step 3: constructing the prediction model based on the known pregnancy status and the predetermined parameter,
wherein the differentially expressed gene information is obtained by:
(a) predicting a gene expression situation within the whole genome by using a coverage depth of sequencing reads of the cell-free DNAs in the peripheral blood of the pregnant woman sample at a gene transcription start site;
(b) performing, for a vicinity of each gene transcription start site, significance detection on the coverage depth of the cell-free DNAs at each base site in the premature pregnant woman samples and the full-term pregnant woman samples; and
(c) selecting, based on the significance detection, a significantly differentially expressed gene as premature delivery-related gene, to construct a sequencing model, wherein the significantly differentially expressed genes refer to genes with p<0.05/a total number of genes.
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