Realizing the benefits of human genetics and genomics research for people everywhere.
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
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
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? YL and QS: Genotype imputation is a standard practice but not all variants can be well imputed. State-of-the-art approaches perform poorly for low frequency variants (LFVs) and rare variants (RVs), either removing well-imputed variants or failing to... Read More