Tag: IDeRare: a lightweight and extensible open-source phenotype and exome analysis pipeline for germline rare disease diagnosis
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IDeRare: a lightweight and extensible open-source phenotype and exome analysis pipeline for germline rare disease diagnosis
MABBI – Research conducted by Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, and Cut Nurul Hafifah from UI and Konsultan Transformasi Digital Profesional entitled IDeRare: a lightweight and extensible open-source phenotype and exome analysis pipeline for germline rare disease diagnosis. Diagnosing rare diseases is challenging and has a debilitating impact…