Vignettes

Vignettes are end-to-end biological case studies combining AlphaGenome 2 variant scoring, track predictions, input gradients, and in silico mutagenesis with published experimental results to interpret disease loci.

Fine-mapping the ETS2 locus

Prioritize the likely causal variant (rs2836882), its distal target gene (ETS2), and the myeloid cell types that drive the chr21q22 inflammatory bowel disease association.

Fine-mapping the ETS2 locus

Dissecting non-coding TAL1 mutations in T-ALL

Predict how T-ALL insertions and SNVs near TAL1 remodel RNA-seq, DNase-seq, and histone ChIP-seq tracks, and compare alleles from individuals with T-ALL against length-matched random alleles at the same positions.

Dissecting non-coding TAL1 mutations in T-ALL

Mapping lineage-specific enhancers at the BCL11A locus

Call and cluster enhancer-to-gene links across 8 hematopoietic differentiation lineages with input gradients and chromatin accessibility, recovering the erythroid-specific +55/+58/+62 kb intronic enhancers of BCL11A.

Mapping lineage-specific enhancers at the BCL11A locus