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Article

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenoty** of large patient cohorts provide an opportunity for discovering the unknown etiologies, ...

Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain… in Nature Medicine (2023)