Categoría: The American Journal of Human Genetics

Gaye, Bonham, and Mersha argue that trustworthy AI in African genomics requires representative African datasets, transparent and validated models, African-led governance, local capacity, and culturally grounded community engagement so that AI reduces, …

Gaye, Bonham, and Mersha argue that trustworthy AI in African genomics requires representative African datasets, transparent and validated models, African-led governance, local capacity, and culturally grounded community engagement so that AI reduces, …

We identify five individuals from four unrelated families harboring bi-allelic loss-of-function variants in TMEM63B with childhood interstitial lung disease and developmental delay. Convergent data from affected individuals and mouse model experiments …

We identify five individuals from four unrelated families harboring bi-allelic loss-of-function variants in TMEM63B with childhood interstitial lung disease and developmental delay. Convergent data from affected individuals and mouse model experiments …

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…