Early detection of cancer

D Crosby, S Bhatia, KM Brindle, LM Coussens, C Dive… - Science, 2022 - science.org
Survival improves when cancer is detected early. However,~ 50% of cancers are at an
advanced stage when diagnosed. Early detection of cancer or precancerous change allows …

The emerging landscape of spatial profiling technologies

JR Moffitt, E Lundberg, H Heyn - Nature Reviews Genetics, 2022 - nature.com
Improved scale, multiplexing and resolution are establishing spatial nucleic acid and protein
profiling methods as a major pillar for cellular atlas building of complex samples, from …

100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report

100,000 Genomes Project Pilot … - New England Journal of …, 2021 - Mass Medical Soc
Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …

Substitution mutational signatures in whole-genome–sequenced cancers in the UK population

A Degasperi, X Zou, T Dias Amarante… - Science, 2022 - science.org
Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses,
revealing mutational signatures, imprints of DNA damage, and repair processes that have …

DNA synthesis technologies to close the gene writing gap

A Hoose, R Vellacott, M Storch, PS Freemont… - Nature Reviews …, 2023 - nature.com
Synthetic DNA is of increasing demand across many sectors of research and commercial
activities. Engineering biology, therapy, data storage and nanotechnology are set for rapid …

[HTML][HTML] Advances and trends in omics technology development

X Dai, L Shen - Frontiers in Medicine, 2022 - frontiersin.org
The human history has witnessed the rapid development of technologies such as high-
throughput sequencing and mass spectrometry that led to the concept of 'omics' and …

[HTML][HTML] Microscopic examination of spatial transcriptome using Seq-Scope

CS Cho, J Xi, Y Si, SR Park, JE Hsu, M Kim, G Jun… - Cell, 2021 - cell.com
Spatial barcoding technologies have the potential to reveal histological details of
transcriptomic profiles; however, they are currently limited by their low resolution. Here, we …

Towards complete and error-free genome assemblies of all vertebrate species

A Rhie, SA McCarthy, O Fedrigo, J Damas, G Formenti… - Nature, 2021 - nature.com
High-quality and complete reference genome assemblies are fundamental for the
application of genomics to biology, disease, and biodiversity conservation. However, such …

Opportunities and challenges in long-read sequencing data analysis

SL Amarasinghe, S Su, X Dong, L Zappia, ME Ritchie… - Genome biology, 2020 - Springer
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

Generating lineage-resolved, complete metagenome-assembled genomes from complex microbial communities

DM Bickhart, M Kolmogorov, E Tseng, DM Portik… - Nature …, 2022 - nature.com
Microbial communities might include distinct lineages of closely related organisms that
complicate metagenomic assembly and prevent the generation of complete metagenome …