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The Power of Variant Interpretation in Monogenic Renal Conditions Introduction Renal diseases represent a major global health burden. They range from common conditions, such as...
The Core Challenge Some of the largest challenges in connecting a patient’s health status to the genomic data at hand are due to the lack...
Dravet Syndrome: The Critical Importance of Early Diagnosis by Genome Sequencing & Variant Identification Over 80% of DS patients suffer from truncating and missense mutations...
