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- ---
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- license: cc-by-nc-4.0
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- ---
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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+ ---
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+ license: cc-by-nc-4.0
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+ task_categories:
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+ - tabular-classification
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+ tags:
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+ - biology
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+ - medical
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+ - genomics
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+ - genetics
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+ - bioinformatics
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+ pretty_name: Genetic Variant Pathogenicity Classification
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+ size_categories:
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+ - 10K<n<100K
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+ ---
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+
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+ # Genetic Variant Pathogenicity Dataset
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+
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+ ## Dataset Description
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+ This dataset contains annotated genetic variants (mutations) designed for tabular binary classification tasks. The objective is to predict whether a given genetic variant is **Pathogenic** (disease-causing) or **Benign** (harmless) based on a rich set of bioinformatics annotations, evolutionary conservation scores, and functional prediction tools.
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+
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+ - **Task:** Binary Classification
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+ - **Target Column:** `Pathologic/Benign`
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+
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+ ## Dataset Structure
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+
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+ The dataset is pre-split into `train` and `test` sets, making it ready for immediate machine learning modeling. The class distribution is highly balanced.
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+
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+ | Split | Number of Rows | Benign Count | Pathogenic Count |
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+ |-------|----------------|--------------|------------------|
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+ | Train | 7,856 | 3,940 | 3,916 |
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+ | Test | 4,910 | 2,460 | 2,450 |
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+
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+ ## Key Features
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+
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+ The dataset consists of 69 columns. While it includes extensive biological data, some of the most critical feature categories include:
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+
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+ * **Variant Identifiers:** `Chrom`, `Position`, `Ref Base`, `Alt Base`, `Gene`
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+ * **Molecular Consequences:** `Sequence Ontology` (e.g., *missense_variant*), `cDNA change`, `Protein Change`
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+ * **Population Frequencies:** Allele frequencies from the 1000 Genomes Project and ESP6500.
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+ * **Functional Prediction Scores:** `CADD Exome Score`, `PolyPhen-2`, `SIFT`, `REVEL Score`
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+ * **Conservation Scores:** `GERP++`, `PhyloP`, `SiPhy`
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+ * **Target Label:** `Pathologic/Benign` (Values: "Benign" or "Pathogenic")
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+
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+ ## Usage
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+
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+ You can easily load and explore this dataset using the Hugging Face `datasets` library:
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+
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+ ```python
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+ from datasets import load_dataset
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+
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+ # Load the dataset (replace 'your-username' with your actual Hugging Face username)
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+ dataset = load_dataset("your-username/genetic-variant-pathogenicity")
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+
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+ # View the dataset structure
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+ print(dataset)
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+
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+ # Convert the train split to a Pandas DataFrame for easy manipulation
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+ df_train = dataset['train'].to_pandas()
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+ print(df_train['Pathologic/Benign'].value_counts())