| CPC G16B 30/10 (2019.02) [G06N 3/04 (2013.01); G06N 3/084 (2013.01); G16B 40/20 (2019.02); G16B 40/30 (2019.02); G16H 50/20 (2018.01)] | 20 Claims |

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1. A method of diagnosing a disease state in a test subject by using a trained artificial neural network, the method comprising:
obtaining, from a biological sample associated with the test subject, sequencing data derived from a methylation sequencing assay of cell-free nucleic acids in the biological sample;
applying, subsequent to the obtaining, the sequencing data to the trained artificial neural network;
determining, subsequent to the applying and by processing the sequencing data using a plurality of filter sets resident within a plurality of convolutional layers of the trained artificial neural network, whether a methylation profile of the sequencing data is detected that is indicative of a disease state, wherein:
a first filter of the plurality of filter sets is configured to identify a methylation pattern at a single methylation site in a genomic region;
a second filter of the plurality of filter sets is configured to identify a relationship between each of the single methylation sites in the genomic region; and
wherein the trained artificial neural network is configured to integrate outputs from the first filter and outputs from the second filter to generate the methylation profile; and
providing, on a display screen of a computing device and based on the determining, a diagnosis for the test subject with respect to the disease state.
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