Posted By: HGG Advances HGGA: What motivated you to start working on this project? JM: From the perspective of developmental biology and physiology, I found it fascinating that a gene important for mitochondrial complex IV function could be deleted in its entirety. Yet, more important for me was the opportunity to help a family arrive... Read More
Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B Position: PhD Candidate, Department of Genome Sciences, University of Washington & Fred Hutch Cancer Center ASHG: Can you describe the type of research that has your primary focus? Elizabeth Plender: I study genetic variation in the mucins, a set of heterogenous loci that encode... Read More
A novel multivariable Mendelian randomization framework to disentangle highly correlated exposures with application to metabolomics Position: Postdoctoral Associate in the Pan Lab working with Professor Wei Pan, Division of Biostatistics & Health Data Science, University of Minnesota ASHG: Can you describe the type of research that has your primary focus? Lap Sum Chan: My research... Read More
By Meena Radhakrishnan, MD As a writer for this Trainee Newsletter, something is always in the back of my mind: my struggles, along with my dreams and aspirations. It was in eighth grade that genetics was introduced to me in the form of Mendel’s Experiment. The simple experiment evolved my thinking into a new branch... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? AP: I‘ve had an interest in structural variants (SVs) ever since working on microdeletions identified in array data from the Autism Genomes Project. Now that large clinical genome sequencing datasets are available via the 100k Genomes Project,... Read More