Purpose: To validate a novel BeadChip assay system for cystic fibrosis (CF) mutation testing using the panel of 25 ACMG recommended mutations and D1152H. Methods: DNA from 519 individuals originally ...
Neuroscience rarely enjoys clean experiments. Most brain disorders are mosaics of risk genes, aging, lifestyle and chance that leave their origins obscured. Huntington's disease (HD) is different. It ...
Because GJB2/GJB6 genetic testing offers clinical and informational benefits, it is a near certainty that it will become an important addition to current EDHI protocols. In this commentary, we discuss ...
Liquid biopsy encompasses a variety of molecular approaches to detect circulating tumor DNA (ctDNA) and has become a powerful tool in the diagnosis and treatment of solid tumors. Current applications ...