Career Interview

Cassie Spracklen, PhD is an assistant professor in the Department of Biostatistics and Epidemiology at the University of Massachusetts-Amherst.

Inside HGG Advances: A Chat with Cassie Spracklen

Posted By: HGG Advances HGGA: What motivated you to start working on this project? CS: In order to move from genome-wide associated loci toward potentially effective clinical and therapeutic targets, we need to identify which target/effector gene(s) the associate variants are being modulated. There are multiple methods that currently exist that can be used to... Read More

Santhosh Girirajan, MBBS, PhD, is a Professor of Genomics and the T. Ming Chu Professor of Biochemistry and Molecular Biology in the Department of Biochemistry and Molecular Biology and of Anthropology at Pennsylvania State University.

Inside AJHG: A Chat with Santhosh Girirajan

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

Inside <em>HGG Advances</em>: A Chat with Thales Nepomuceno

Inside HGG Advances: A Chat with Thales Nepomuceno

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

Inside <em>AJHG</em>: A Chat with Maya Sabatello and Greta Goto

Inside AJHG: A Chat with Maya Sabatello and Greta Goto

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? MS and GG: There’s been much discussion about the underrepresentation of historically marginalized gender, racial and ethnic groups in precision medicine research and the ramification of this underrepresentation for health equity. We are a diverse team, all... Read More

Paul Okoro Data Scientist II. Marcus Institute for Aging Research – Harvard Medical School

Trainee Paper Spotlight: Paul Okoro

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

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