Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Single nucleotide variants (SNVs) contribute to human genomic diversity. Synonymous
SNVs are previously considered to be “silent,” but mounting evidence has revealed that …

A proportion of previously defined benign variants or variants of uncertain significance in
humans, which are challenging to identify, may induce an abnormal splicing process. An …

Background Sympathetic activation of brown adipose tissue (BAT) thermogenesis can
ameliorate obesity and related metabolic abnormalities. However, crucial subtypes of the β …

Synonymous (also known as silent) variations are by definition not considered to change the
coded protein. Still many variations in this category affect either protein abundance or …

Accurate identification of driver mutations is crucial in genetic studies of human cancers.
While numerous cancer driver missense mutations have been identified, research into …

Wilson disease (WD) is a hereditary disorder of copper metabolism, resulting from mutations
within ATP7B. Early diagnosis is essential for affected individuals. However, there are still …

Birth defect is a global threat to the public health systems. Mitigating neonatal anomalies is
hampered by elusive molecular mechanisms of pathogenic mutations and poor subsequent …

Background Genomic variants outside of the canonical splicing site (±2) may generate
abnormal mRNA splicing, which are defined as non-canonical splicing variants (NCSVs) …

Interpretation of disease-causing genetic variants remains a challenge in human genetics.
Current costs and complexity of deep mutational scanning methods hamper crowd-sourcing …