HIGHLIGHTS
- who: Leslie Matalonga from the Médicale, Bordeaux, France have published the research: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data, in the Journal: (JOURNAL)
- what: The project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the main goals of the project is to comprehensively reanalyse more than 19,000 phenotypically well characterised exome/ genome negative datasets from unsolved patients with RDs submitted by European Reference Networks (ERNs). This approach has enabled the diagnosis of the first 120 cases within Solve-RD. The approach included the use . . .
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