Interpretation#
Helpers for interpreting model predictions via in silico mutagenesis (ISM) and enhancer-to-gene (E2G) scoring:
ISM:
ism_variantslists every single-base substitution in an interval, andism_matrixturns per-variant scores fromDnaClient.score_ism_variantsinto a position-by-base matrix.Enhancer scoring:
tile_interval,score_enhancers,get_active_enhancers, andassign_consensus_enhancerstile genomic intervals, score candidate elements frompredict_interval_gradients()(orpredict_interval_gradients_batch()) outputs, call active enhancer-gene links with modality-calibrated thresholds, and cluster called peaks into cross-biosample consensus intervals.
ISM#
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Create a list of all possible single nucleotide variants for an interval. |
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Construct the ISM (position, base) matrix from individual ISM scores. |
Enhancer scoring#
Call and score candidate cis-regulatory enhancers from
predict_interval_gradients()
(or
predict_interval_gradients_batch())
outputs and chromatin accessibility tracks. See Mapping lineage-specific enhancers at the BCL11A locus for an
end-to-end walkthrough.
Partitions |
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Scores candidate enhancers for the target gene of an input gradient. |
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Calls and merges active enhancer-to-gene links from input gradients. |
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Assigns cross-biosample consensus peak bounds via reciprocal-overlap NMS. |
- alphagenome.interpretation.enhancer_scoring.DEFAULT_GRADIENT_SCORE_THRESHOLDS: Mapping[OutputType, float]#
Calibrated default per-tile
gradient_scorethresholds byOutputTypeon 1 Mb genomic intervals.