Congratulations to our winners and thank you to all who participated. Happy DNA Day! 2023 Question In 2023, The American Society of Human Genetics celebrates its 75th anniversary! We want to kick off the festivities with you, the next generation of human geneticists. The theme of our celebrations is “One Humanity, Many Genomes™.” In your... Read More
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
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Posted By: HGG Advances HGGA: What motivated you to start working on this project? LM: Polygenic risk scores (PRS) have been a hot topic in the field of complex disorders for several years now, and they continue to be topical as new methods and datasets emerge to aid in improving the prediction accuracy of these... Read More