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Convolutional Neural Network (CNN)

Definition
AI-generated

A convolutional neural network (CNN) applies learned local filters across spatial or sequential inputs (images, 1D sequence windows, or multi-channel tensors), pooling or striding to build hierarchical features; weight sharing makes CNNs data-efficient for grid-like or local-motif structure.

Synonyms

Why it matters in GWAS

CNNs score regulatory DNA, predict splice sites and motif effects from sequence, and analyze spatial omics (e.g. imaging endophenotypes or spatial transcriptomics tiles). When SNP or haplotype windows feed a CNN, LD and population structure can dominate unless explicitly controlled in training and evaluation.

Example usage

"We compared a CNN sequence model against position weight matrices for classifying pathogenic noncoding variants near GWAS lead SNPs."

References

  • LeCun Y, et al. (1998). Gradient-based learning applied to document recognition. Proc IEEE.

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