Hyun-Jun Nam

TL;DR: An online application for survival analysis (OASIS) that helps conduct various novel statistical tasks involved in analyzing survival data in a user-friendly manner and provides statistical methods that can analyze variances among survival datasets.

TL;DR: This work demonstrates the utility of MutPred2 in the identification of the structural and functional mutational signatures relevant to Mendelian disorders and the prioritization of de novo mutations associated with complex neurodevelopmental disorders, and argues that mechanism-driven studies of human inherited disease have the potential to significantly accelerate the discovery of clinically actionable variants.

TL;DR: The utility of MutPred2 is demonstrated in the identification of the structural and functional mutational signatures relevant to Mendelian disorders and the prioritization of de novo mutations associated with complex neurodevelopmental disorders and it is argued that mechanism-driven studies of human inherited diseases have the potential to significantly accelerate the discovery of clinically actionable variants.

TL;DR: It is demonstrated that ROS activate two proteins, AMP-activated kinase (AMPK) and hypoxia-inducible factor 1 (HIF-1), to promote longevity by increasing immunity and that internal ROS levels are reduced by AMPK while being amplified by Hif-1 when animals are stimulated to have higher ROS levels.

TL;DR: This work investigates protein features underlying loss‐of‐function genetic variation and develops a machine learning method, MutPred‐LOF, for the discrimination of pathogenic and tolerated variants that can also generate hypotheses on specific molecular events disrupted by the variant.