Paper Spotlight

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

Ruizhi (Vince) Duan, MS Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability Position: Ph.D. Candidate in Genetics and Genomics Program, Lupski Lab, Baylor College of Medicine ASHG: Can you describe the type of research that has your primary focus? Ruizhi: My research explores the etiology... Read More

Samuel Smith, PhD, Brown University Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries Position: Postdoctoral Research Fellow – Arbel Harpak Lab – University of Texas at Austin ASHG: Can you describe the type of research that has your primary focus? Samuel Smith: My research focuses on developing... Read More

Shawn Fayer, MS, CGC, PhD candidate, University of Washington Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN  Position: PhD Candidate – University of Washington, Department of Genome Sciences  ASHG: Can you describe the type of research that has your primary focus?   Shawn Fayer: My... 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