AMRC

We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system of the nanopore GridION sequencer using the adaptive sampling option, in which software-based target assignment is available without prior sample enrichment, and built an analysis pipeline that prioritized the disease-causing loci.

Significance Dendritic cells (DCs), essential for immune responses, originate from bone marrow hematopoietic stem cells via intermediate progenitors. In eukaryotic nuclei, DNA is packaged into 3D chromatin structures that have been implicated in gene regulation. However, the chromatin structure reorganization dynamics during DC differentiation remain unknown. Here, we analyzed 3D chromatin structures in DCs and their progenitors. In genomic regions at DC-specific genes, the 3D chromatin structures were reorganized upon DC differentiation. The transcription factor IRF8 promoted chromatin structure changes in DC progenitors, leading to DC-specific gene induction. Strikingly, the chromatin structures of infection-inducible genes were preestablished in unstimulated DCs. Our findings advance the understanding of DC biology and basic principles of gene regulation for cell differentiation and host defense.

We are amid the historic coronavirus infectious disease 2019 (COVID-19) pandemic. Imbalances in the accessibility of vaccines, medicines, and diagnostics among countries, regions, and populations, and those in war crises, have been problematic.

Purpose: Rapid decision-making is essential in precision medicine for initiating molecular targeted therapy for patients with cancer. This study aimed to extract pathomorphologic features that enable the accurate prediction of genetic abnormalities in cancer from hematoxylin and eosin images using deep learning (DL).