Careers & Learning

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

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

Posted By: HGG Advances HGGA: What motivated you to start working on this project? DD: The scientific motivation of this work was to investigate, for diseases, whether there are tissues beyond the obvious candidates where genes might manifest associations, and if so, can we interpret such findings from an etiologic viewpoint. The statistical method is... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project? TZ: As a researcher with biostatistics training, I feel it is crucial to get my hands on real-world data to validate the efficiency of many methods that people develop on paper or whiteboards. My advisor kindly offered me this opportunity! HGGA:... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project? GP: Non-alcoholic fatty liver disease is a silent epidemic, and 25% of Americans are affected by it. There are currently not any medications approved for this disease. This is partly because we poorly understand the genetic mechanisms associated with this disease.... Read More