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Chunk #13 — SUMMARY STATISTICS IN THE GWAS CATALOG

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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.
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A GWAS Catalog summary statistics datastore, based on the HDF5 library format developed in collaboration with Open Targets, is now available for computational access of SS data (see data availability section). The API is developed in Python using the Flask framework and the h5py library, backed by a series of HDF5 files. SS data from the Catalog are processed via a pipeline that implements a harmonization and QC process (see supplementary material), data are then loaded into the datastore, where they are indexed by study, trait, variant and base pair location. This provides rapid access to SS data when querying by one of these dimensions, for example for fine mapping of variants. The GWAS Catalog eligibility criteria have been updated to include SS, and in future all Catalog entries with eligible summary statistics will be loaded into the datastore.