Etiqueta: #AnnuRevGenomicsHumGenet

The advent of next-generation sequencing has expanded our understanding of the genotypic, pathobiological, and phenotypic spectrum of human disease, helping to inform more personalized patient care. Current clinical guidelines are prompting the generat…

Numerous human diseases are caused by changes in gene expression levels. In addition, changing the expression levels of specific genes can lead to therapeutic benefits for several diseases. Systems using nuclease-deficient gene-editing proteins fused t…

Organoids have reshaped biomedical research by providing stem cell–derived model systems that capture key aspects of tissue organization, homeostasis, and disease. Their physiological relevance and adaptability have made them indispensable tools …

The pangenome initiative marks a major shift from reliance on a single human reference that undersamples global diversity. Building phased, diploid assemblies from specific regions reveals population haplotypes and structural variants. This review outl…

Richard Gibbs interviews James (Jim) Lupski about his training in New York and work in Houston to elucidate the role of complex genomic rearrangements in human genetic diseases. The challenges and excitement of developing human personalized genomics an…

Artificial intelligence (AI) technologies have recently undergone transformative growth in capabilities. In human genetics, AI is rapidly advancing our ability to reveal the effects of genetic variation. This review explores recent progress and remaini…

Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures in two or more body areas resulting from reduced or absent fetal movements. AMC exhibits marked phenotypic and genetic heterogeneity, as it is a symptom rather t…

In this article, I recount and reflect on the US Department of Energy’s contributions to sequence the human genome as part of the Human Genome Project.