Patent ID: 11861491
Assignee: ILLUMINA, INC.
Field: Computer technology (Electrical engineering)
Classification: CPC G | IPC G

Claim 16:
17. The non-transitory computer readable medium of claim 15, wherein the operations further comprise:
encoding, by one or more protein binding affinity sub-classifiers of the trained convolutional neural network-based pathogenicity classifier, a protein binding affinity score to each base position in the input promoter sequence;
encoding, by one or more deoxyribonucleic acid (abbreviated DNA) accessibility sub-classifiers, a DNA accessibility inducing score to each base position in the input promoter sequence; and
generating the pathogenicity predictions for each of the three base variations at each base position in the input promoter sequence based on the a corresponding protein binding affinity score and the a corresponding DNA accessibility inducing score.