Article

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset

2026-05-19

Abstract excerpt

Rare disease research and diagnosis rely on the integration of genomic and phenotypic data generated across diverse clinical sites; however, the absence of widely adopted standards for representing genomic data and associated metadata has limited data interoperability, reuse, and cross-study analysis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was established to investigat...

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Literature Corpus work: 56f9bf5e-d91d-53e3-80bc-66d99f7cf2c0
DOI: 10.64898/2026.05.15.725546

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