Gary E Marchant
Gary E Marchant
Human gene editing, particularly using the new CRISPR/Cas9 technology, will greatly increase the capability to make precise changes to human genomes. Human gene editing can be broken into four major categories: somatic therapy, heritable ge...
Christi J Guerrini,Jorge L Contreras
Christi J Guerrini
Citizen science encompasses activities with scientific objectives in which members of the public participate as more than passive research subjects from whom personal data or biospecimens are collected and analyzed by others. Citizen scienc...
Andy Dahl,Noah Zaitlen
Andy Dahl
Disease classification, or nosology, was historically driven by careful examination of clinical features of patients. As technologies to measure and understand human phenotypes advanced, so too did classifications of disease, and the advent...
Pangenome Graphs [0.03%]
泛基因组图谱
Jordan M Eizenga,Adam M Novak,Jonas A Sibbesen et al.
Jordan M Eizenga et al.
Low-cost whole-genome assembly has enabled the collection of haplotype-resolved pangenomes for numerous organisms. In turn, this technological change is encouraging the development of methods that can precisely address the sequence and vari...
Michael A Beer,Dustin Shigaki,Danwei Huangfu
Michael A Beer
Spatiotemporal control of gene expression during development requires orchestrated activities of numerous enhancers, which are cis-regulatory DNA sequences that, when bound by transcription factors, support selective activation or repressio...
The Laminopathies and the Insights They Provide into the Structural and Functional Organization of the Nucleus [0.03%]
核纤层蛋白病及其对细胞核结构和功能组织的见解
Xianrong Wong,Colin L Stewart
Xianrong Wong
In recent years, our perspective on the cell nucleus has evolved from the view that it is a passive but permeable storage organelle housing the cell's genetic material to an understanding that it is in fact a highly organized, integrative, ...
Daniel R Zerbino,Adam Frankish,Paul Flicek
Daniel R Zerbino
Our understanding of the human genome has continuously expanded since its draft publication in 2001. Over the years, novel assays have allowed us to progressively overlay layers of knowledge above the raw sequence of A's, T's, G's, and C's....
David R FitzPatrick,Helen V Firth
David R FitzPatrick
Our ability to make accurate and specific genetic diagnoses in individuals with severe developmental disorders has been transformed by data derived from genomic sequencing technologies. These data reveal both the patterns and rates of diffe...
Alexej Abyzov,Flora M Vaccarino
Alexej Abyzov
Tracing cell lineages is fundamental for understanding the rules governing development in multicellular organisms and delineating complex biological processes involving the differentiation of multiple cell types with distinct lineage hierar...
Caroline M Dias,Christopher A Walsh
Caroline M Dias
Recent advances in understanding the genetic architecture of autism spectrum disorder have allowed for unprecedented insight into its biological underpinnings. New studies have elucidated the contributions of a variety of forms of genetic v...