Etiqueta: #AnnuRevGenomicsHumGenet

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 …

Aging is the primary risk factor for many diseases, including neurodegenerative disorders, cardiovascular diseases, and cancer. The rapid advancement of single-cell sequencing technologies has opened promising avenues for investigating aging-associated…

The growing field of human synthetic biology has rapidly accelerated the development of programmable genetic systems that can control cellular phenotypes and function. As the scale of synthetic systems has increased, researchers have focused on identif…

Precise spatiotemporal regulation of gene expression is critical for the development and functioning of complex, multicellular organisms. Enhancers play a fundamental role in the regulation of gene expression, but the molecular underpinnings of enhance…

Aneuploidy, characterized by the gain or loss of chromosomes, plays a critical role in both cancer and congenital aneuploidy syndromes. For any aneuploidy, we can distinguish between its general effects and its chromosome-specific effects. General effe…

Over the last decade, a set of very short (3–51 nt) and highly conserved microexons have been found to crucially influence a set of diverse protein functions and interactions. Advancements in RNA sequencing and analysis pipelines have revealed an…

Collectively, various tandem and interspersed repetitive sequences make up approximately half the human genome, yet we have only begun to understand the potential functions of “junk” DNA. Here, we provide a brief overview of various types o…

Newborn screening for phenylketonuria began in the United States in the early 1960s, and it expanded one disease at a time until the development of tandem mass spectrometry. This technology allowed for screening many conditions simultaneously, but its …

The Human Genome Project was an enormous accomplishment, providing a foundation for countless explorations into the genetics and genomics of the human species. Yet for many years, the human genome reference sequence remained incomplete and lacked repre…