Benefit-Sharing by Design: A Call to Action for Human Genomics Research [0.03%]
利随事走——为人基因组研究制定共享机制的行动倡议书
Ann M Mc Cartney,Amber Hartman Scholz,Mathieu Groussin et al.
Ann M Mc Cartney et al.
The ethical standards for the responsible conduct of human research have come a long way; however, concerns surrounding equity remain in human genetics and genomics research. Addressing these concerns will help society realize the full pote...
Causes and Consequences of Varying Transposable Element Activity: An Evolutionary Perspective [0.03%]
可移动遗传元件活性变化的原因和结果：进化视角
Andrea J Betancourt,Kevin H-C Wei,Yuheng Huang et al.
Andrea J Betancourt et al.
Transposable elements (TEs) are genomic parasites found in nearly all eukaryotes, including humans. This evolutionary success of TEs is due to their replicative activity, involving insertion into new genomic locations. TE activity varies at...
Antonia Kolovos,Mark M Hassall,Owen M Siggs et al.
Antonia Kolovos et al.
Glaucoma is a clinically heterogeneous disease and the world's leading cause of irreversible blindness. Therapeutic intervention can prevent blindness but relies on early diagnosis, and current clinical risk factors are limited in their abi...
Ksenia Sokolova,Kathleen M Chen,Yun Hao et al.
Ksenia Sokolova et al.
Deciphering the regulatory code of gene expression and interpreting the transcriptional effects of genome variation are critical challenges in human genetics. Modern experimental technologies have resulted in an abundance of data, enabling ...
Benjamin J Talks,Michael W Mather,Manisha Chahal et al.
Benjamin J Talks et al.
The development and deployment of single-cell genomic technologies have driven a resolution revolution in our understanding of the immune system, providing unprecedented insight into the diversity of immune cells present throughout the body...
The Myriad Decision at 10 [0.03%]
《千项决定之十年》
Jacob S Sherkow,Robert Cook-Deegan,Henry T Greely
Jacob S Sherkow
A decade ago, the US Supreme Court decided Association for Molecular Pathology v. Myriad Genetics, Inc., concluding that isolated genes were not patentable subject matter. Beyond being a mere patent dispute, the case was a political and cul...
M Grace Gordon,Pooja Kathail,Bryson Choy et al.
M Grace Gordon et al.
Population-scale single-cell genomics is a transformative approach for unraveling the intricate links between genetic and cellular variation. This approach is facilitated by cutting-edge experimental methodologies, including the development...
Craig Smail,Stephen B Montgomery
Craig Smail
RNA sequencing (RNA-seq) enables the accurate measurement of multiple transcriptomic phenotypes for modeling the impacts of disease variants. Advances in technologies, experimental protocols, and analysis strategies are rapidly expanding th...
PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments [0.03%]
PIK3CA相关性疾病：从疾病机制到基于证据的治疗
Gabriel M Morin,Lola Zerbib,Sophie Kaltenbach et al.
Gabriel M Morin et al.
Recent advances in genetic sequencing are transforming our approach to rare-disease care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also detected in malformation mosaic diseases categorized as PIK3CA-...
Giulia Hardouin,Elisa Magrin,Alice Corsia et al.
Giulia Hardouin et al.
Sickle cell disease (SCD) is a monogenic blood disease caused by a point mutation in the gene coding for β-globin. The abnormal hemoglobin [sickle hemoglobin (HbS)] polymerizes under low-oxygen conditions and causes red blood cells to sick...