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.

Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among ...

The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whether false ...

Although his background is in business including a stint as an investment banker, Travis Lacey was always drawn to the diagnostics market. That interest ultimately led him to join the team at Human ...

Germline non-BRCA1/2 mutations and clinico-radio-pathologic features of early-onset breast cancer patients in Thailand. Genetic counseling (GC) in the era of next generation sequencing (NGS) to ...