Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? DF: I initially trained as a chemist, so I’m surprised to have written this paper about variants of uncertain significance. I moved from chemistry to genomics because it was, and still is, a hotbed of technological development.... 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
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? YT: As a researcher, it is important for me to think about this problem: what can you do to ensure the results and the benefits of your research are equally shared by everyone? It has been widely... Read More
The lead-up to the annual ASHG meeting is an exciting time for the human genetics community and this sense of excitement is shared by the editors of the ASHG journals, The American Journal of Human Genetics (AJHG) and Human Genetics and Genomics Advances (HGG Advances). They have been hard at work planning for this year’s... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? CSR: We’re the only clinical genetics lab for the only medical school in Oregon – OHSU is a major healthcare provider for the Oregon population. Our lab had the expertise to carry out the genetic testing, interpretation... Read More
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