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
For Immediate Release: Thursday, April 25, 2024, 12:00 p.m. U.S. Eastern Time Media Contact: Kara Flynn, 202.257.8424, [email protected] ROCKVILLE, MD – As part of its celebration of National DNA Day, the American Society of Human Genetics (ASHG) today announced the winners of its 2024 DNA Day Essay Contest, which encourages high school students and teachers worldwide to learn about human... Read More
Congratulations to our winners and thank you to all who participated. Happy DNA Day! 2024 Winners 1st Place: Megan Xie, Grade 12 Teacher: Mrs. Margot Bram School: Lower Moreland High School Location: Huntingdon Vy, Pennsylvania 2nd Place: Macey Hunter, Grade 12 Teacher: Ms. Cameron Simpkins School: Fayetteville High School Location: Fayetteville, Arkansas 3rd Place: Justin Lin, Grade 11 Teacher: Ms. Kailin... Read More
ASHG 2024 will be here before you know it! Sessions are being crafted, workshops organized, exhibits developed, and people from around the world are preparing to gather in Denver, CO from November 5-9 to discuss the newest, most exciting research in human genetics. Ask Your Institution Some institutions build professional development into their annual budget, so... Read More