Synthetic Dataset Included

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The beacon2-ri-tools GitHub repository includes the CINECA_synthetic_cohort_EUROPE_UK1 (license: CC-BY) dataset to test B2RI functionalities.

The dataset was acquired from EGA (EGAD00001006673), please see the full description here.

Important

The original VCF for this dataset contains >85M variants for 2,504 samples (low coverage WGS). Here, we have included the VCF (input) and genomicVariations (output) for chromosome 22, which contains ~1.1M variants.

Please contact helpdesk@ega-archive.org should you want get access to the whole dataset.

For additional information please browse the included documentation in the installation directory.