Categoría: Articulos
-
Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders
Annals of Human Genetics, EarlyView.
-
Public and parent perspectives on genomic sequencing in newborn screening: a scoping review
European Journal of Human Genetics, Published online: 06 February 2026; doi:10.1038/s41431-026-02024-xPublic and parent perspectives on genomic sequencing in newborn screening: a scoping review
-
Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta
BackgroundOsteogenesis imperfecta (OI) is a hereditary disorder primarily caused by mutations in COL1A1 or COL1A2, leading to bone fragility and deformities. Although numerous pathogenic variants have been identified, novel mutations in specific popula…
-
Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research Program
This investigation demonstrates the validity and high predictive ability of a prostate cancer polygenic risk score (PRS) across populations in the All of Us Research Program. It further demonstrates that PRS performance varies by certain demographic-, …
-
Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver
We performed chromatin accessibility quantitative trait locus (caQTL) mapping in 175 healthy human liver samples and identified 14,076 caQTLs. These data, along with other regulatory mechanism datasets, were integrated with liver-relevant genome-wide a…
-
Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues
Mendelian randomization (MR) is widely used to identify causality between human traits; however, it suffers from high error rates. Van der Graaf et al. benchmark MR using human metabolic networks to understand MR’s failure modes. Extensive biological f…
-
This month in The Journal
The current biotechnology industry is characterized by intense competition. Although this competition can drive innovation and increased investment, too much competition can prevent collaboration and potentially foster a culture in which data and metho…
-
Health care impact of comprehensive genomic profiling of solid tumors in patient management using POWER (Precision Oncology at Western University)
Molecular profiling of solid tumors is increasingly essential in oncology practice, guiding diagnosis-prognosis and providing patients with access to molecularly matched therapies that can improve outcomes. In this study, we evaluated 554 patients with…
-
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review
BackgroundPOLR3A gene-related syndrome is a complex genetic disorder with diverse clinical manifestations. Understanding its characteristics is crucial for diagnosis and management. Previous studies have reported various aspects of this syndrome, yet a…
-
Navigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02022-zNavigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users