Navneet Matharu,Nadav Ahituv
Navneet Matharu
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 prot...
Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity [0.03%]
Xiao P Peng,John M Greally
Xiao P Peng
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...
Lainie Friedman Ross,Kelly E Ormond
Lainie Friedman Ross
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 simultaneous...
Organoid Perturbations as Tools to Explore Cellular Function and Plasticity [0.03%]
类器官扰动作为探索细胞功能和可塑性的工具
Katharina E Kohl,Georg A Busslinger
Katharina E Kohl
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 ...
Bassam Jamalalail,Mohammad Amiruddin Hashmi,Mohamed A Almarri et al.
Bassam Jamalalail et al.
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...
James R Lupski,Richard A Gibbs
James R Lupski
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...
Nadav Brandes
Nadav Brandes
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...
Judith Melki
Judith Melki
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 symp...
A Personal Retrospective on the US Department of Energy Contribution to the Human Genome Project [0.03%]
美国能源部的人类基因组计划贡献的个人回顾
Aristides A N Patrinos
Aristides A N Patrinos
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.
Brain Organoids: Tools for Understanding the Uniqueness and Individual Variability of the Human Brain [0.03%]
脑类器官：理解人类大脑的独特性和个体差异的工具
Irene Faravelli,Noelia Antón-Bolaños,Juliana R Brown et al.
Irene Faravelli et al.
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 h...