Article

A unified data infrastructure to support large-scale rare disease research

2023-12-20

Abstract excerpt

The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing (“solving”) rare diseases (RDs). The project aims to significantly increase the diagnostic success rate by co-analysing data from thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing and multi-omics data. Here we report...

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Literature Corpus work: 93d091f5-bffa-5b5a-b258-75a1c5577aa5
DOI: 10.1101/2023.12.20.23299950

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