gnomad / README.md
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metadata
license: mit
tags:
  - dna
  - variant-effect-prediction
  - biology
  - genomics

gnomAD variants

For more information check out our paper and repository.

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