Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

Genomic tests expand diagnostic and screening opportunities but also identify genetic
variants of uncertain clinical significance (VUSs). Only a minority of VUSs are likely to prove …

Summary Recommendations from the American College of Medical Genetics and Genomics
and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants …

Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …

Purpose Several professional societies have published guidelines for the clinical
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …

Background Resistance to osimertinib in advanced EGFR-mutated non-small cell lung
cancer (NSCLC) constitutes a significant challenge for clinicians either in terms of molecular …

Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in
females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour …

Summary The 2015 American College of Medical Genetics and Genomics and the
Association for Molecular Pathology variant classification publication established a standard …

Background Monogenic diabetes presents opportunities for precision medicine but is
underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria …

Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct
estimation of cancer risk and management of patients. Consistency in the weighting …