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
Transcriptome prediction performance across machine learning models and diverse ancestries Position: Data Scientist II. Marcus Institute for Aging Research – Harvard Medical School ASHG: Can you describe the type of research that has your primary focus? Paul Okoro: My research centers on developing and utilizing data-driven integrated bioinformatics and statistical frameworks. Specifically, I work on... Read More