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: 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
Posted By: HGG Advances HGGA: What motivated you to start working on this project? NG: Although monogenic genetic disorders are individually rare, collectively they affect up to 1 in 20 people in the global population. Over 700 monogenic disorders—including many inherited metabolic disorders, which I study and treat clinically—now have targeted treatments. As more therapies... Read More
Kritika Singh, BS, PhD Candidate Vanderbilt Genetic Institute, Vanderbilt University Medical Center Singh K, et al. Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization. 2021 Nature Communications 12, 4569. ASHG: Can you describe the type of research that has your primary focus? Kritika: My overarching research goals focus on understanding the shared biology of various... Read More