Datasetpublic

just-dna-seq/annotators

Genomic Variant Annotators Curated genomic variant annotation modules from the DNA-seq project. Overview This dataset contains pre-computed annotation data for genetic variants, organized by module: Module Description Files longevitymap Longevity-associated variants annotations.parquet, studies.parquet, weights.parquet Schema annotations.parquet Variant-level facts linking rsIDs to genes and phenotypes. rsid: dbSNP… See the full description on the dataset page: https://huggingface.co/datasets/just-dna-seq/annotators.

sourceHugging Facemitupdated 1mo agoView on Hugging Face

0likes1kdownloads

rootREADME.md

README.md86 linesDownload Raw Back to root

1---2license: mit3tags:4  - biology5  - genetics6  - genomics7  - variants8  - annotation9  - longevity10  - pharmacogenomics11language:12  - en13size_categories:14  - 1K<n<10K15---16 17# Genomic Variant Annotators18 19Curated genomic variant annotation modules from the [DNA-seq](https://github.com/dna-seq) project.20 21## Overview22 23This dataset contains pre-computed annotation data for genetic variants, organized by module:24 25| Module | Description | Files |26|--------|-------------|-------|27| longevitymap | Longevity-associated variants | annotations.parquet, studies.parquet, weights.parquet |28 29## Schema30 31### annotations.parquet32Variant-level facts linking rsIDs to genes and phenotypes.33- `rsid`: dbSNP reference ID34- `module`: Source module name35- `gene`: Associated gene symbol36- `phenotype`: Associated phenotype/trait37- `category`: Functional category38 39### studies.parquet40Per-study evidence from scientific publications.41- `rsid`: dbSNP reference ID42- `module`: Source module name43- `pmid`: PubMed ID44- `population`: Study population45- `p_value`: Statistical significance46- `conclusion`: Study conclusion47- `study_design`: Type of study48 49### weights.parquet50Curator-defined scoring for variant impact.51- `rsid`: dbSNP reference ID52- `genotype`: Genotype as list[str] (e.g., ["C", "T"])53- `module`: Source module name54- `weight`: Numeric weight55- `state`: "protective", "risk", or "neutral"56- `priority`: Priority level57- `conclusion`: Curator conclusion58- `curator`: Curator name59- `method`: Curation method60 61## Usage62 63```python64import polars as pl65 66# Load from HuggingFace67weights = pl.read_parquet("hf://datasets/just-dna-seq/annotators/data/longevitymap/weights.parquet")68studies = pl.read_parquet("hf://datasets/just-dna-seq/annotators/data/longevitymap/studies.parquet")69annotations = pl.read_parquet("hf://datasets/just-dna-seq/annotators/data/longevitymap/annotations.parquet")70```71 72## Statistics73 74- **Modules**: 1 (longevitymap)75- **Total files**: 376- **Total size**: 0.09 MB77 78## License79 80MIT License - See [LICENSE](LICENSE) for details.81 82## Citation83 84If you use this data, please cite the original sources:85- LongevityMap: [https://longevitymap.org/](https://longevitymap.org/)86