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

Claim 7:
8. A computer-implemented method comprising:
accessing an input promoter sequence with reference bases at a plurality of base positions comprising one or more observed pSNV positions corresponding to pSNVs identified within a sample genomic dataset;
processing the input promoter sequence through one or more layers of a trained convolutional neural network-based pathogenicity classifier to generate an alternative representation of the input promoter sequence, the one or more layers of the trained convolutional neural network-based pathogenicity classifier:
trained utilizing input promoter training sequences comprising one or more observed pSNVs sampled from pSNVs identified within the sample genomic dataset and one or more unobserved pSNVs sampled from a pool of substitutionally generated pSNVs at base positions for which pSNVs are not identified within the sample genomic dataset; and
comprising one or more groups of residual blocks, each residual block comprising one or more of a batch normalization layer, a rectified linear unit (ReLU), an atrous convolution layer, or a residual connection; and
processing the alternative representation to generate, for each base position in the input promoter sequence, pathogenicity predictions that classify each of three base variations from a corresponding reference base as benign or pathogenic.