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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Posted By: HGG Advances HGGA: what motivated you to start working on this project? TN: I have been involved in several BRCA1-related projects and what has always driven me is the clinical consequences of identifying carriers of BRCA1 germline pathogenic variants. These individuals are at substantially higher risk of developing breast and ovarian cancer than... Read More
ASHG offers you a variety of digital programming year-round in the ASHG Learning Center. Home to the Society’s professional education and covering the latest science, insights into career development, and interactive technology workshops, the ASHG Learning Center delivers live and on-demand content for human genetics and genomics researchers year-round outside of the Annual Meeting. The... Read More