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| language: | |
| - en | |
| pretty_name: hEvo benchmarks | |
| tags: | |
| - biology | |
| - genomics | |
| - DNA | |
| - benchmark | |
| gated: true | |
| extra_gated_heading: "Reviewer access request" | |
| extra_gated_description: "This repository is reserved for peer reviewers. Please sign in to Hugging Face and submit an access request with your review purpose. MulinLab will review requests manually." | |
| extra_gated_button_content: "Request reviewer access" | |
| <div align="center"> | |
| <img src="https://raw.githubusercontent.com/mulinlab/hEVO/main/header.png" alt="hEvo population-aware DNA foundation model: population diversity, genetic variation, and evolutionary history" width="100%"> | |
| </div> | |
| # hEvo benchmarks | |
| **15 reproducible task bundles for human population genomics** | |
| Frozen evaluation inputs or source downloaders, task-specific construction scripts, and documentation for peer review. Model weights are distributed separately. | |
| [Task catalog](#task-catalog) · [Request access](#access-and-download) · [Build data](#reproduce-a-task-bundle) · [GitHub workflows](https://github.com/mulinlab/hEVO) · [hEVO-base-o](https://huggingface.co/MulinLab/hEVO-base-o) · [hEVO-large-o](https://huggingface.co/MulinLab/hEVO-large-o) | |
| --- | |
| ## Contents | |
| - [Dataset overview](#dataset-overview) | |
| - [Task catalog](#task-catalog) | |
| - [Access and download](#access-and-download) | |
| - [Reproduce a task bundle](#reproduce-a-task-bundle) | |
| - [Sources, terms and citation](#sources-terms-and-citation) | |
| ## Dataset overview | |
| | At a glance | Details | | |
| |:--|:--| | |
| | Collection | **15 task bundles** maintained by MulinLab for peer review | | |
| | Contents | Frozen inputs or upstream downloaders, task-level `build.py`, and construction documentation | | |
| | Model dependency | Model-independent dataset builders; model weights are hosted separately | | |
| | Build environment | Python 3.10–3.12; validated with Python 3.12 | | |
| | Access | Gated; requests are reviewed manually | | |
| | Data terms | Source-specific; this collection does not claim one license for all included data | | |
| ## Task catalog | |
| Choose the task folder for its source descriptions, labels, splits, construction parameters, seeds and build command. | |
| | Task | Evaluation content | Task guide | | |
| |:--|:--|:--| | |
| | `adaptation` | Selected-allele preference | [Open guide](adaptation/README.md) | | |
| | `ancestry` | Genetic ancestry | [Open guide](ancestry/README.md) | | |
| | `causal_variants` | Fine-mapped GWAS candidate variants | [Open guide](causal_variants/README.md) | | |
| | `clinvar` | ClinVar snapshot dated 2026-06-15 | [Open guide](clinvar/README.md) | | |
| | `clinvar_reclassification` | Retrospective ClinVar reclassification | [Open guide](clinvar_reclassification/README.md) | | |
| | `deepsea` | DeepSEA | [Open guide](deepsea/README.md) | | |
| | `denovo_variants` | DDD de novo variant controls | [Open guide](denovo_variants/README.md) | | |
| | `evolution` | HAR and HAQER classification | [Open guide](evolution/README.md) | | |
| | `haqer_windows` | HAQER grouped windows | [Open guide](haqer_windows/README.md) | | |
| | `genomic_elements` | Genomic elements | [Open guide](genomic_elements/README.md) | | |
| | `mpra` | MPRA emVar | [Open guide](mpra/README.md) | | |
| | `rare_causal_variants` | Rare fine-mapped GWAS candidates | [Open guide](rare_causal_variants/README.md) | | |
| | `rare_variants` | UK Biobank rare variant associations | [Open guide](rare_variants/README.md) | | |
| | `ure_binary` | URE binary classification | [Open guide](ure_binary/README.md) | | |
| | `ure_multiclass` | URE multiclass classification | [Open guide](ure_multiclass/README.md) | | |
| ## Access and download | |
| Access is gated for peer reviewers and approved manually by MulinLab. Sign in to Hugging Face, request access on this page, and wait for approval. After approval, authenticate locally with `hf auth login` using your own read token. Download only the task files needed for your analysis. | |
| For example, to fetch the MPRA bundle and shared requirements file: | |
| ```python | |
| from huggingface_hub import snapshot_download | |
| snapshot_download( | |
| "MulinLab/hEvo-benchmarks", | |
| repo_type="dataset", | |
| allow_patterns=["mpra/*", "requirements.txt"], | |
| local_dir="hEvo-benchmarks", | |
| ) | |
| ``` | |
| Individual data tables and source workbooks are also available from the repository Files tab. For one ancestry population or one ClinVar reclassification seed, download the corresponding `data/*.tar.zst` archive and `unpack.py`, then run: | |
| ```bash | |
| python unpack.py ancestry --group afr | |
| python unpack.py clinvar_reclassification --group seed_01 | |
| ``` | |
| Files are extracted under the selected task's `data/` directory. Omit `--group` to extract all downloaded archives for that task. | |
| ## Reproduce a task bundle | |
| Use Python **3.10–3.12** (validated with 3.12) and install the construction dependencies: | |
| ```bash | |
| pip install -r requirements.txt | |
| python <task>/build.py --help | |
| ``` | |
| Run the command documented in that task's README. Common path options are resolved against the corresponding script directory. Reference-based tasks require an external indexed hg38 FASTA and its `.fai` index. Add external tools only where needed: samtools to index a FASTA, curl for ENCODE, and bedtools/pybedtools for recreating the optional evolution negative pool. URE builds use the Python standard library. DeepSEA tensors and HAQER LMDBs are built locally. | |
| ## Sources, terms and citation | |
| Each task guide documents its source data, publications, labels, splits, output files, construction parameters and random seeds. The terms of the source publications remain applicable; approval to access this collection does not replace them. Check the task guide and cited source before using or redistributing any material. No single collection-wide license is claimed. | |
| For code and complete benchmark workflows, see [mulinlab/hEVO](https://github.com/mulinlab/hEVO). For the evaluated checkpoints, see [hEVO-base-o](https://huggingface.co/MulinLab/hEVO-base-o) and [hEVO-large-o](https://huggingface.co/MulinLab/hEVO-large-o). | |