Add 8192 bp allele localization config metadata
Browse files
README.md
CHANGED
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@@ -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
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@@ -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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- `
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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.
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Unique variant chromosome distribution across `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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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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Label distribution:
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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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Chromosome distribution:
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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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## ClinVar Filtering
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Rows were retained from ClinVar only if they met all of the following criteria:
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