Posted By: HGG Advances HGGA: What motivated you to start working on this project? TR: I started this project as a postdoc, and my interests include variant classification and investigating the clinical utility and impact of exome sequencing. HGGA: What about this paper/project most excites you? TR: I appreciate that this was a very collaborative... Read More
ASHG convened its Industry Roundtable in April 2026, bringing together Society leaders and representatives from companies across human genetics and genomics—including Illumina, BridgeBio, GeneDx, and PacBio. The Roundtable serves as a collaborative forum to discuss challenges and opportunities in the field, review progress on shared priorities, and identify new opportunities for partnership and investment that... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? NB: I think the topic of outliers is really interesting! At the start of my PhD, there were two ways I was thinking about outliers: people who have extreme observed values, and people who have extremely different... Read More
For Immediate Release: Monday, June 8, 1:00 p.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, [email protected] Rockville, MD – Today, the American Society of Human Genetics (ASHG) announced the launch of the ASHG Artificial Intelligence (AI) Initiative, a multi-part effort designed to promote and advance the responsible, effective use of AI across human genetics and genomics. AI... Read More
Autism is a neurodevelopmental condition affecting approximately 1 in 31 children (3.2%) and approximately 2.2% of adults.[1],[2] Research shows that genetic factors significantly contribute to autism; hundreds of genes and chromosomal variations are known to increase the likelihood of autism.[3] Advances in genetic testing – such as genome sequencing – and large-scale collaborative genomic studies... Read More