Molecular oncology laboratories face mounting pressure as expanding sequencing capabilities produce increasingly complex variant profiles that demand extensive interpretation. At the same time, ...
Variant interpretation in cancer susceptibility genes presents unique challenges due to issues such as phenocopies, incomplete/age-related penetrance and the mortality associated with the phenotype.
Hearing loss is genetically heterogeneous, with over 121 implicated genes. Minor allele frequency (MAF) data from population databases greatly aid variant interpretation; however, these databases are ...
Large language models (LLMs) have recently been adopted to assist in the interpretation of human genomic variants. However, general-purpose LLMs can produce incorrect outputs (commonly termed ...
Understanding the Biology and Testing Techniques for Pharmacogenomics in Oncology: A Practical Guide for the Clinician Clinical practice guidelines may also provide algorithm-based guidance for use of ...
Prevalence and Spectrum of AR Ligand-Binding Domain Mutations Detected in Circulating-Tumor DNA Across Disease States in Men With Metastatic Castration-Resistant Prostate Cancer Six hundred and eight ...
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