Widespread clinical laboratory implementation of next-generation sequencing–based
cancer testing has highlighted the importance and potential benefits of standardizing the …

Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted
by clinical laboratories. To establish analytical validation best practice guidelines for NGS …

Accurate and consistent variant classification is required for Precision Medicine. But clinical
variant classification remains in its infancy. While recent guidelines put forth jointly by the …

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

Context.—The analysis of somatic mutations across multiple genes in cancer specimens
may be used to aid clinical decision making. The analytical validation of targeted next …

Purpose: Interpretation systems for clinical laboratory reporting of genetic variants for
inherited conditions have been widely published. By contrast, there are no existing systems …

Next-generation sequencing (NGS) has been rapidly integrated into molecular pathology,
dramatically increasing the breadth genomic of information available to oncologists and their …

Of hundreds to thousands of somatic mutations that exist in each cancer genome, a large
number are unique and non-recurrent variants. Prioritizing genetic variants identified via …

The scale of tumor genomic profiling is rapidly outpacing human cognitive capacity to make
clinical decisions without the aid of tools. New frameworks are needed to help researchers …

Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is …