For Immediate Release: Thursday, February 15, 2024, 3:00pm U.S. Eastern Time Media Contact: Kara Flynn, 202.257.8424, press@ashg.org ROCKVILLE, MD - The American Society of Human Genetics (ASHG) is excited to announce the selection of Amanda Perl as the organization’s next Chief Executive Officer. Perl has served in numerous association leadership positions with deep experience in strategic... Read More
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
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