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 ...
(L to R) Co-first author Jackson Mobley, PhD, corresponding author Daniel Savic, PhD, and co-first author Kashi Raj Bhattarai, PhD, all of the St. Jude Department of Pharmacy and Pharmaceutical ...
In recent years, the development of large-scale sequencing projects has identified numerous genomic variants in the human genome. For instance, the NyuWa genome resource (Cell Reports, 2021), led by ...
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