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#1 · Systems biology

Deep learning extends variant, regulatory and chromatin interaction prediction

7 preprints · 3 published · ↑ 2.5× vs 4-wk avg
Items per day, last 8 weekstoday: 10

The dominant thread is the augmentation of sequence-based prediction with orthogonal molecular evidence. MPRabc combines MPRA-predicted reporter activity, sequence features, epigenomic signals and 3D contacts to improve enhancer-gene prediction, while SCEG-HiC uses bulk Hi-C as a prior for single-cell enhancer-gene links and GraphChIAr augments Hi-C maps with ChIP-seq profiles. MOSAIC fuses a DNA language model, multi-scale CNN and annotation features for noncanonical splice-altering variants, and Porcine MutBERT introduces SNP-targeted masking in lightweight genomic foundation models. A multi-species benchmark of ten splicing predictors reports AUROC losses of roughly 21 to 33 percent for task-specific and foundation models. Other items extend this pattern to causal network inference grounded in molecular evidence, base-resolution INDEL mutation rate maps, and long-read structural variant calling. What is new is the explicit integration of heterogeneous experimental layers rather than sequence alone.

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