Protein mutagenesis is essential for unveiling the molecular mechanisms underlying protein
function in health, disease, and evolution. In the past decade, deep mutational scanning …

Simple Summary Hearing loss is the most common sensory impairment in humans. Globally,
GJB2 is the most common responsible gene, with missense variants being the most frequent …

Methods to characterize the functional effects of genetic variants of uncertain significance
(VUSs) have been limited by incomplete coverage of the mutational space. In clinical …

The advent of targeted therapies has led to tremendous improvements in treatment options
and their outcomes in the field of oncology. Yet, many cancers outsmart precision drugs by …

Abstract Non-Small Cell Lung Cancer (NSCLC) represents∼ 85% of all lung cancers and∼
15–20% of them are characterized by mutations affecting the Epidermal Growth Factor …

Lung cancer, the leading cause of cancer-related mortality, is the most commonly diagnosed
cancer. Tyrosine kinase inhibitors (TKIs) are considered a drug-targeted therapy for non …

Mutations in the epidermal growth factor receptor (EGFR) gene are common driver
oncogenes in non-small cell lung cancer (NSCLC). Studies have shown that afatinib is …

Variants of uncertain significance (VUS) hamper the clinical application of genetic
information. For example, in treating lung cancer with tyrosine kinase inhibitors (TKIs), many …

Bladder cancer is one of the most common urological malignancies worldwide. The
molecular mechanism underlying its development is complex, but its carcinogenesis has …

Objectives To validate a large next-generation sequencing (NGS) panel for comprehensive
genomic profiling and improve patient access to more effective precision oncology treatment …