Iron is crucial for numerous physiological processes, including neurotransmitter synthesis, myelin formation, DNA synthesis and mitochondrial functions, and it profoundly influences neurodevelopment, ...
Coronary artery disease (CAD) is the leading cause of morbidity and mortality worldwide 1. CAD has a strong genetic component with an estimated heritability of 40–60% (ref. 2). Large-scale genome-wide ...
Systemic sclerosis (SSc) is a severe autoimmune disease with complex genetic causes. Some genetic contributors have been identified, but others remain unknown, which has impeded development of ...
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
Beyond connectivity closing exome gap enhances genomic workflows in health systems with scalable Epic Aura integration and current variant data.
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