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...
Jane Rogers
Jane Rogers
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 w...
Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype [0.03%]
重复基因组在核结构中的新兴功能：来自人类染色体的观点
Lisa L Hall,Kelly P Smith,Jeanne B Lawrence
Lisa L Hall
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...
Elaine R Mardis
Elaine R Mardis
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...
Tahnee Mackensen,Manuel Irimia
Tahnee Mackensen
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 revea...
Xinhe Zheng,Jiwen Li,Xin Jin
Xinhe Zheng
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 ha...
Breast Cancer: Genetic Risk Assessment, Diagnostics, and Therapeutics in African Populations [0.03%]
非洲人群乳腺癌的遗传风险评估、诊断和治疗
Achille V C Manirakiza,Leon Mutesa,Christopher G Mathew et al.
Achille V C Manirakiza et al.
Breast cancer is a major public health burden that disproportionately affects women of African descent. Substantial progress has been made in understanding the genetic and biological drivers of breast cancer worldwide. However, this knowled...
Abby R Thurm,Geovanni L Janer Carattini,Lacramioara Bintu
Abby R Thurm
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 focuse...
Matthew K Harner,Daniela V Bishop,Rebecca M Pollak et al.
Matthew K Harner et al.
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 ...