---
license: mit
tags:
  - dna
  - variant-effect-prediction
  - biology
  - genomics
---
# gnomAD variants
For more information check out our [paper](https://www.nature.com/articles/s41587-024-02511-w) and [repository](https://github.com/songlab-cal/gpn).

## Labels
| Label | Meaning |
| ----- | ---- |
| True | Rare, singleton (AC=1) |
| False | Common (MAF > 5%) |

Note that the label does not indicate deleteriousness/pathogenicity. This is not suitable for a classification task. We recommend calculating enrichment or rare variants at the tail of model scores.

## Usage
* Pandas
```python
import pandas as pd
df = pd.read_parquet("hf://datasets/songlab/gnomad/test.parquet")
```
* Polars
```python
import polars as pl
df = pl.read_parquet("https://huggingface.co/datasets/songlab/gnomad/resolve/main/test.parquet")
```
* Datasets
```python
from datasets import load_dataset
dataset = load_dataset("songlab/gnomad", split="test")
```