This Collection supports and amplifies research related to SDG 3: Good Health & Wellbeing. The human genome is a vast landscape, with less than 2% of its sequence encoding proteins. For many years, ...
Novel Gene and Variant Discovery in Human Genetic Disorders: From Coding and Non-Coding RNA variants
Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...
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