Application of gene markers in multi-cancer early detection, method for constructing early detection model, and detection device

Abstract

The present disclosure relates to an application of gene markers in multi-cancer early detection, a method for constructing an early detection model, and a detection device. In the present disclosure, low-coverage whole-genome sequencing is conducted on cell-free DNAs (cfDNAs) from a plasma sample, and according to high-throughput sequencing results, six differential features of the cfDNA fragments are analyzed for each cancer. Then the training and modeling are conducted with a convolutional neural network to allow the early detection of a plurality of cancers at a low sequencing depth. Then the training and modeling are conducted with a generalized linear model (GLM), a gradient boosting machine, a random forest model, a deep learning model, and an extreme gradient boosting model, and staking is conducted with a GLM to construct a multi-feature algorithm, to allow the tissue-of-origin-based detection of cancers.