Etiqueta: #AnnuRevGenomicsHumGenet

Rare genetic variants have illuminated mechanisms of common diseases and have even led to novel treatment approaches. Some copy number variants (CNVs) have been associated with extraordinary risk for complex neuropsychiatric phenotypes and thus offer a…

Genetic counselors have a complex relationship with disability communities due to both the legacy of eugenics and their ongoing role counseling families about prenatal testing. Drawing on a social model of disability and highlighting mistaken assumptio…

Integrating genomics into healthcare within the precision medicine (PM) framework poses distinct challenges in resource-limited regions like Latin America and the Caribbean (LAC). These challenges arise partly from the lack of PM models tailored for lo…

Molecular profiling of DNA and RNA from pediatric cancers by next-generation sequencing has been demonstrated to improve diagnosis and prognosis and to identify somatic alterations indicating vulnerability to targeted therapies. Hence, much like in the…

Understanding the drivers of human brain specialization, and how specialized properties are codified during development and evolution, seems to be within reach for the first time. Improved cell-based experimental models of the human brain have empowere…

2025 marks the twenty-fifth anniversary of the completion of a working draft of the 3-Gb human genome sequence and its availability in public databases to promote research into human health and disease for the benefit of all. The sequence was produced …

In this short memoir, I recount the series of improbable interactions and events that led me from medical school to a leadership role in the Human Genome Project.

Genomics has the potential to transform human health, biomedical research, and life sciences by providing deep insights into genetic variation and disease mechanisms. However, fully realizing these benefits requires a well-trained workforce equipped to…

Interpretations of the so-called genomic diversity problem in precision medicine research reflect an enduring colonial logic tied to liberal identity/difference politics, prioritizing representational equity, diversity, and inclusion over substantive e…

Tremendous progress has been made in identifying genetic variants associated with neurodevelopmental disorders (NDDs), particularly autism spectrum disorder (ASD). However, the extensive (and growing) lists of associated genetic variants have led to a …