Etiqueta: AmJHumGenet

Cell-cell communication (CCC) events coordinate physiological functions in multicellular organisms and are important for exploring biological processes and disease mechanisms. We introduce STACCato, a tensor-based regression model that assesses conditi…

Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection of all clinically relevant variant types in paralogous genes. It resolves “dark” regions while enabling haplotype phasing, accurate gene and pseudogene copy-number…

Patricia Ann Jacobs died on the March 15, 2026, aged 91 years. In her late 80s, she developed Alzheimer disease, and her final three years were spent in a nursing home until she died shortly after suffering a major stroke. Pat will be principally remem…

Existing best practices for pre-clinical and clinical research are not well-suited for individualized therapeutic approaches that leverage new treatment modalities, such as antisense oligonucleotides (ASOs). The increasing number of individualized ASOs…

Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection of all clinically relevant variant types in paralogous genes. It resolves “dark” regions while enabling haplotype phasing, accurate gene and pseudogene copy-number…

Patricia Ann Jacobs died on the March 15, 2026, aged 91 years. In her late 80s, she developed Alzheimer disease, and her final three years were spent in a nursing home until she died shortly after suffering a major stroke. Pat will be principally remem…

Existing best practices for pre-clinical and clinical research are not well-suited for individualized therapeutic approaches that leverage new treatment modalities, such as antisense oligonucleotides (ASOs). The increasing number of individualized ASOs…

Cell-cell communication (CCC) events coordinate physiological functions in multicellular organisms and are important for exploring biological processes and disease mechanisms. We introduce STACCato, a tensor-based regression model that assesses conditi…

Underrepresentation of admixed populations limits equitable polygenic risk score (PRS) application. We developed DiscoDivas, a genetic-distance-assisted framework that interpolates PRSs across an ancestry continuum. By harmonizing multiple fine-tuned m…

Underrepresentation of admixed populations limits equitable polygenic risk score (PRS) application. We developed DiscoDivas, a genetic-distance-assisted framework that interpolates PRSs across an ancestry continuum. By harmonizing multiple fine-tuned m…