Human genetics and genomics have a profound impact on individuals, families, and communities. By showcasing narratives highlighting the potential of genetic research, ASHG seeks to honor those who participate in research and underscore the real-world implications of scientific inquiry. Hearing the voices of patients and their families can help members of the genetics and genomics research... 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