Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? CT: Early in my graduate training, I found myself pivoting from experimental biology to computational research in an environment that excelled in statistical genetics. This provided a fascinating intersection of disciplines where I was ultimately drawn... Read More
The Messenger sat down recently with Claudia Carvalho, PhD, an Assistant Investigator in the Carvalho Lab at the Pacific Northwest Research Institute, where her team explores the genetic causes of rare diseases and the biological mechanism of formation of genomic variants that impact disease expression. She has been a member of ASHG for 15 years... Read More
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
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
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