RD-Connect GPAP synthetic data spiked-in variant data

This data is a subset of Rare Disease Synthetic Dataset (EGAD00001008392) dataset. The subset only contains the chromosomal regions with the spiked-in causative variants. The associated study is the Human genomic and phenotypic synthetic data for the study of rare diseases (EGAS00001005702) study. For more info go to https://ega-archive.org/. All this data was created with the support of the RD-Connect GPAP (https://platform.rd-connect.eu/), EC H2020 project EJP-RD (grant # 825575), EC H2020 project B1MG (grant # 951724) and Generalitat de Catalunya VEIS project (grant # 001-P-001647).