Diagnosis is essential for the management and treatment of patients with rare diseases. In a group patients, genetic study identifies variants uncertain significance or inconsistent phenotype; therefore, it urgent to develop novel strategies reach definitive diagnosis. Herein, we in-house Translational Diagnostics Program (TDP) validate as part diagnostic process close collaboration physicians,...

no abstract is provided.

BACKGROUND Maximizing efficiency in drug development is important for drug developers, policymakers, and human subjects. Limited funds and the ethical imperative of risk minimization demand that researchers maximize the knowledge gained per patient-subject enrolled. Yet, despite a common perception that the current system of drug development is beset by inefficiencies, there remain few approach...