April 2023

Posted By: HGG Advances HGGA: What motivated you to start working on this project? DC: I have a long-standing interest in studying variant effects on gene expression and protein function and in unravelling the molecular mechanisms of disease-associated variants. As part of my PhD project, I developed the SpliceAI-10k calculator, a SpliceAI-based splicing prediction tool... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? SI: Ossification of the posterior longitudinal ligament of the spine (OPLL) is an intractable disease that causes spinal canal stenosis leading to myelopathy and/or radiculopathy. OPLL is a common disease. Its prevalence is more than 2% in... Read More

ASHG honors excellence in research conducted by predoctoral and postdoctoral trainees (including genetic counseling trainees) through merit-based awards that recognize highly competitive abstracts submitted and presented at the ASHG Annual Meeting. Currently, the total value of ASHG’s Trainee Research Excellence Award is approximately $70,000 annually. Formerly known as the Charles J. Epstein Trainee Research Awards.... Read More