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? TZ: As a researcher with biostatistics training, I feel it is crucial to get my hands on real-world data to validate the efficiency of many methods that people develop on paper or whiteboards. My advisor kindly offered me this opportunity! HGGA:... Read More
The ASHG membership team recently sat down with Ileana Delia Sabau, MD an MD Specialist in Medical Genetics at Synevo Romania. As a part of the ESHG-Y, the European Society of Human Genetics’ Young Geneticists Committee, Dr. Sabau is passionate about engaging the next generation and shares her work in the field as well as... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? CS: In order to move from genome-wide associated loci toward potentially effective clinical and therapeutic targets, we need to identify which target/effector gene(s) the associate variants are being modulated. There are multiple methods that currently exist that can be used to... Read More
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
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