Medicine and Health

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

W. L. Macken, M. Falabella, et al.

Discover how specialist multidisciplinary input significantly boosts diagnostic rates in complex primary mitochondrial diseases (PMD) through diagnostic whole genome sequencing. This innovative approach, demonstrated by authors including William L Macken and Micol Falabella, not only enhances patient care but also identifies potential disease-causing variants in previously challenging cases.

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