Careers & Learning

Elizabeth Plender, BS/BA

Trainee Excellence Spotlight: Elizabeth Plender, BS/BA

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

Lap Sum Chan, MS

Trainee Excellence Spotlight: Lap Sum Chan, MS, PhD

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

Alistair Pagnamenta, PhD

Inside AJHG: A Chat with Alistair Pagnamenta

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

Rachel Youjin Oh, MD, is a fourth year resident in the Medical Genetics and Genomics program at the University of Toronto and the Hospital for Sick Children.

Inside HGG Advances: A Chat with Rachel Oh

Posted By: HGG Advances HGGA: What motivated you to start working on this project? RO: Accurate variant interpretation is essential to both genome diagnostics and screening in medical genetics. Canonical splice site variants (CSSVs) are considered “null variants” (in the same category as nonsense, frameshift, initiation codon, single or multi-exon deletion variants) in a gene... Read More

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