Realizing the benefits of human genetics and genomics research for people everywhere.
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? SG: My lab has been studying the mechanisms underlying the variable expressivity of rare variants in complex disorders like autism and intellectual disability. We observed that affected children inheriting a variably expressive rare variant (such as 16p12.1... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? MS and GG: There’s been much discussion about the underrepresentation of historically marginalized gender, racial and ethnic groups in precision medicine research and the ramification of this underrepresentation for health equity. We are a diverse team, all... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? DD: The scientific motivation of this work was to investigate, for diseases, whether there are tissues beyond the obvious candidates where genes might manifest associations, and if so, can we interpret such findings from an etiologic viewpoint. The statistical method is... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? CC: I would say the project started with the first author of the paper, Xin Sheng, who is a staff scientist here in the Center for Genetic Epidemiology as USC. It was really her unrelentless tenacity to track down a quality... Read More
Established in 1949, The American Journal of Human Genetics (AJHG) is ASHG’s flagship scientific journal that continues to publish many of the most important findings in human genetics. Topics range from Mendelian disorders and complex traits to epidemiological studies and population genetics, novel tools and technologies for genetic analysis, and advances in medical applications of genetics and... Read More