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RD-Connect GPAP synthetic data spiked-in variant data

Name: RD-Connect GPAP synthetic data spiked-in variant data
Creator: Ouwerkerk, Jasper
Keywords: 3. Good health

Research datakeyboard_double_arrow_right Dataset 14 Jun 2022Publisher:ZenodoFunded by:EC | EJP RD, EC | CINECA

Authors: Ouwerkerk, Jasper;

doi: 10.5281/zenodo.7245100 , 10.5281/zenodo.7273767 , 10.5281/zenodo.6642655

RD-Connect GPAP synthetic data spiked-in variant data

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Abstract

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).

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3 Research products, page 1 of 1

RD-Connect GPAP synthetic data (case5 chr17)
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