Create README.md
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README.md
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---
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license: afl-3.0
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tags:
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- biology
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---
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SAV = Single Amino Acid Variant
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Task: Variant Effect Prediction
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This is a binary classification task predicting whether a single amino acid substitution (mutation) has:
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Neutral: No significant effect on protein function/stability (benign/tolerated variant)
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Effect: Significant effect on protein function/stability (deleterious/pathogenic variant)
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What This Dataset Is About
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This is a classic variant effect prediction or mutation effect prediction task, which is critical for:
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Clinical genetics: Distinguishing disease-causing mutations from benign polymorphisms
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Protein engineering: Understanding which mutations are tolerated vs. disruptive
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Evolutionary biology: Identifying functionally important residues
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Similar Benchmarks
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This task is similar to datasets like:
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ClinVar: Human genetic variants (pathogenic vs. benign)
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ProteinGym: Variant effect prediction across many proteins
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COSMIC: Cancer mutation databases
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Tools like SIFT, PolyPhen-2, REVEL predict variant effects
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How It Works
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For each protein, they likely have:
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Wild-type sequence: ...ACDEFG...
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Mutation: Position 3, D→N
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Label: neutral or effect
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The model must learn from the sequence context whether changing D to N at that position disrupts the protein.
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The Splits Explained
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human.csv: Human protein variants only (clinically relevant)
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mixed.csv: Variants across multiple species (broader evolutionary context)
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only_savs.csv: Filtered to include only single-point mutations (excluding insertions/deletions/multiple mutations)
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Neutral = variant is tolerated, doesn't break protein function
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Effect = variant affects function (could mean loss of function, gain of function, mislocalization, instability, etc.)
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