Saturday, April 19

Reanalyzing Genomic Data: Unlocking Diagnoses for Rare Disorders

Main Points:

– European Solve-Rare Diseases Consortium reanalyzed existing genomic data.
– Over 500 patients with undiagnosed rare disorders received a genetic diagnosis through the study.

Author’s take:

Reanalyzing existing genomic data has proven to be a valuable tool in providing new diagnoses for rare disorders, with over 500 patients benefiting from this study. This approach showcases the importance of utilizing available resources to unlock answers in the realm of genetic diseases.

Click here for the original article.