The Telomere-to-Telomere consortium has already generated a gapless assembly of the human X chromosome and aims to complete all chromosomes over the next two years or so.
Five early customers are currently operating the Sequel II, which promises an eightfold increase in throughput, making reference genome sequencing feasible.
At the AGBT conference, MGI Tech showcased its technologies, while a Sanger Institute researcher presented results from a comparison between BGI and Illumina data.
Researchers are turning to spatial technologies to study tumor heterogeneity and as a complement to single-cell sequencing to locate specific cell types.
At the AGBT meeting last night, Johns Hopkins researcher Joshua Cohen said that the partners are looking to recruit 50,000 healthy individuals for the study.
Startup Samplix is developing a droplet-based technique while others are turning to CRISPR/Cas9 as a way to enrich long regions of interest for sequencing.
The Fix-C method is a modified version of Hi-C and makes use of the fact that the structural information relevant in cancer is preserved in FFPE samples.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
