Artificial-intelligence-based method for detecting tumor-derived mutation of cell-free dna, and method for early diagnosis of cancer, using same

An artificial intelligence-based device for early diagnosis of cancer, the device comprising:

• a decoder configured to extract nucleic acids from a biological sample and decode sequence information;
• an aligner configured to align the decoded sequence with a reference genome database;
• a mutation detector configured to detect a mutation based on the aligned sequence information;
• a tumor-derived mutation detector configured to input the detected mutation into an artificial intelligence model trained to distinguish a tumor-derived mutation and determine whether or not a tumor-derived mutation is present;
• and
• a cancer diagnostic unit configured to determine that cancer or microscopic residual cancer is present when the tumor-derived mutation is detected.

A computer-readable storage medium including an instruction configured to be executed by a processor for early diagnosis of cancer, through the following steps comprising:

• (a) extracting nucleic acids from a biological sample to obtain sequence information;
• (b) aligning the sequence information (reads) with a reference genome database;
• (c) detecting a mutation based on the aligned sequence reads;
• (d) inputting the detected mutation information to an artificial intelligence model trained to distinguish tumor-derived mutations and comparing an output value with a cut-off value to determine whether or not a tumor-derived mutation is present;
• and
• (e) determining that cancer or microscopic residual cancer is present when the tumor-derived mutation is detected,
• wherein the artificial intelligence model in step (d) is trained to distinguish the tumor-derived mutation based on at least one feature selected from the group consisting of a functional feature of cancer, a mutation pattern, and a technical feature of mutation.