Human genetics and genomics has 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... Read More
In May 2024, ASHG hosted a fourth year of virtual advocacy meetings with policymakers on Capitol Hill. Over the course of a week, participants in the 2024 cohort of the Advocacy Certificate for Human Genetics and Genomics Trainees (ACGT) program joined members of past ACGT cohorts and members of the Government and Public Advocacy Committee (GPAC) in meetings with 15 congressional... 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
For Immediate Release: Monday, May 20, 2024, 10:00 am U.S. Eastern Time Media Contact: Kara Flynn, 202.257.8424, press@ashg.org Rockville, MD – The American Society of Human Genetics (ASHG) is excited to announce the 2024-2026 ASHG-National Human Genome Research Institute (NHGRI) Genomics and Public Service Fellows. Ten fellows have been selected as part of a new expanded program... Read More
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