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README.md

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+---
+license: cc-by-4.0
+task_categories:
+  - tabular-classification
+language:
+  - en
+tags:
+  - biology
+  - genomics
+  - clinical-genetics
+  - missense-variants
+  - loss-of-function
+  - gain-of-function
+  - variant-effect-prediction
+  - benchmark
+  - precision-medicine
+size_categories:
+  - 100K<n<1M
+---
+
+# GLOF: A large-scale expert-curated benchmark of missense variant functional effects
+
+GLOF (Gain and Loss Of Function) is a benchmark dataset of **112,399 missense variants** across **2,809 human genes**, each classified as **LOF** (loss-of-function), **GOF** (gain-of-function), or **Neutral** by board-certified clinical geneticists.
+
+## Dataset Description
+
+The dataset was curated at [Mendelics Analise Genomica](https://www.mendelics.com/), one of Latin America's largest clinical genomics laboratories. The annotation process integrated ClinVar pathogenicity classifications, published functional studies, established gene-disease relationships, and expert clinical judgment following ACMG/AMP guidelines.
+
+- **Pathogenic variants** were sourced from ClinVar (July 2023 release) and cross-referenced against the March 2026 release; variants with reclassified or conflicting evidence were excluded.
+- **Neutral variants** were drawn from gnomAD v3.1 and validated against v4.1 allele frequencies, selecting missense variants with AF > 1%.
+
+## Dataset Schema
+
+| Field | Type | Description |
+|-------|------|-------------|
+| VARIANTKEY | String | Unique variant identifier: `chr-position-ref-alt` (GRCh38) |
+| LABEL | String | Functional classification: `Neutral`, `LOF`, or `GOF` |
+| ENSG | String | Ensembl gene identifier |
+| GENE_SYMBOL | String | HGNC gene symbol |
+| AA_POSITION | Integer | Amino acid substitution position in the canonical protein |
+| PROTEIN_REF | Character | Reference (wild-type) amino acid |
+| PROTEIN_ALT | Character | Alternate (mutant) amino acid |
+
+## Class Distribution
+
+| Class | Variants | Percentage | Genes |
+|-------|----------|------------|-------|
+| Neutral | 83,902 | 74.6% | 2,749 |
+| LOF | 25,368 | 22.6% | 2,020 |
+| GOF | 3,129 | 2.8% | 260 |
+
+## Usage
+
+```python
+from datasets import load_dataset
+
+dataset = load_dataset("victormaricato/glof")
+```
+
+## Citation
+
+If you use this dataset, please cite:
+
+```bibtex
+@article{maricato2026glof,
+  title={GLOF: A large-scale expert-curated benchmark dataset of gain-of-function and loss-of-function missense variants},
+  author={Maricato, Victor and Schlesinger, David and de Souza Moura, Pedro Nuno},
+  year={2026}
+}
+```
+
+## License
+
+This dataset is released under the [CC BY 4.0](https://creativecommons.org/licenses/by/4.0/) license.