cgeorgiaw HF Staff commited on
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8950149
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1 Parent(s): 2d45f20

Add 8192 bp allele localization config metadata

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  1. README.md +51 -2
README.md CHANGED
@@ -12,6 +12,10 @@ configs:
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  data_files:
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  - split: train
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  path: pathogenic_pairwise/train-*
 
 
 
 
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  - config_name: all_tasks
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  data_files:
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  - split: train
@@ -27,7 +31,8 @@ VEPQA is a supervised fine-tuning dataset for variant-effect-prediction style qu
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  - `binary`: binary clinical-significance classification.
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  - `clinvar_levels`: finer-grained ClinVar clinical-significance classification.
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  - `pathogenic_pairwise`: reference-vs-alternate sequence preference for pathogenic or likely pathogenic variants.
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- - `all_tasks`: concatenation of the three task configs.
 
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  ## Row Format
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@@ -99,7 +104,7 @@ Dataset-wide provenance summary:
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  Every prompt sequence is 8,192 bp long and is wrapped in closed DNA tags, for example `<dna>...</dna>`. The variant is placed at the final base of the sequence context: `variant_index_0based = 8191`, equivalent to `variant_position_1based = 8192`.
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- The `all_tasks` config has 6,000 task rows but 4,000 unique variant keys. The `binary` and `clinvar_levels` configs are two views of the same 2,000 clinical-classification variants; `pathogenic_pairwise` contributes 2,000 additional pathogenic or likely pathogenic variants.
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  Unique variant chromosome distribution across `all_tasks`:
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@@ -161,6 +166,50 @@ Task-row chromosome distribution in `all_tasks`:
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  }
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  ```
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  ## ClinVar Filtering
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  Rows were retained from ClinVar only if they met all of the following criteria:
 
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  data_files:
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  - split: train
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  path: pathogenic_pairwise/train-*
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+ - config_name: pairwise_allele_localization_8192
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+ data_files:
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+ - split: train
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+ path: pairwise_allele_localization_8192/train-*
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  - config_name: all_tasks
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  data_files:
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  - split: train
 
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  - `binary`: binary clinical-significance classification.
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  - `clinvar_levels`: finer-grained ClinVar clinical-significance classification.
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  - `pathogenic_pairwise`: reference-vs-alternate sequence preference for pathogenic or likely pathogenic variants.
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+ - `pairwise_allele_localization_8192`: 8,192 bp control task over the same source rows as `pathogenic_pairwise`; asks which allele appears in each sequence at the final variant position, without asking for pathogenicity.
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+ - `all_tasks`: concatenation of the original three task configs. This config is intentionally unchanged by the localization-task addition.
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  ## Row Format
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  Every prompt sequence is 8,192 bp long and is wrapped in closed DNA tags, for example `<dna>...</dna>`. The variant is placed at the final base of the sequence context: `variant_index_0based = 8191`, equivalent to `variant_position_1based = 8192`.
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+ The `all_tasks` config has 6,000 task rows but 4,000 unique variant keys. The `binary` and `clinvar_levels` configs are two views of the same 2,000 clinical-classification variants; `pathogenic_pairwise` contributes 2,000 additional pathogenic or likely pathogenic variants. The `pairwise_allele_localization_8192` config is a separate diagnostic view over the same 2,000 source rows as `pathogenic_pairwise` and is not included in `all_tasks`.
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  Unique variant chromosome distribution across `all_tasks`:
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  }
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  ```
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+ ### Pairwise Allele Localization 8192
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+
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+ The `pairwise_allele_localization_8192` config contains 2,000 rows using the same ClinVar source variants as `pathogenic_pairwise`. It presents the two 8,192 bp DNA sequences and asks the model to identify which allele appears in each sequence at position 8192. This is a sequence-comparison / allele-binding diagnostic, not a pathogenicity classification task.
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+
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+ Label distribution:
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+
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+ ```json
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+ {
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+ "Likely pathogenic": 659,
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+ "Pathogenic": 670,
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+ "Pathogenic/Likely pathogenic": 671
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+ }
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+ ```
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+
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+ Chromosome distribution:
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+
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+ ```json
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+ {
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+ "1": 178,
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+ "2": 219,
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+ "3": 103,
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+ "4": 40,
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+ "5": 89,
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+ "6": 84,
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+ "7": 102,
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+ "8": 49,
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+ "9": 70,
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+ "10": 66,
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+ "11": 136,
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+ "12": 108,
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+ "13": 35,
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+ "14": 38,
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+ "15": 80,
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+ "16": 86,
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+ "17": 177,
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+ "18": 20,
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+ "19": 105,
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+ "20": 33,
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+ "21": 16,
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+ "22": 32,
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+ "X": 134
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+ }
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+ ```
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+
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  ## ClinVar Filtering
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  Rows were retained from ClinVar only if they met all of the following criteria: