DNA sequencing

Lillian Musila highlights a paper by Quick et al., which reported the use of portable nanopore sequencing for on-site, real-time genomic surveillance during the 2014–2016 Ebola virus epidemic.

In six new studies published in Science, the Telomere-to-Telomere (T2T) Consortium reports the assembly and initial characterization of the final, previously unresolved 8% of the human genome.

A paper in Nature Biotechnology describes epigenetic expression inference from cfDNA-sequencing (EPIC-seq), and demonstrates its use for non-invasive classification of cancers.

A paper in Molecular Cell reports EpiDamID, a new tool for simultaneously profiling transcription and histone post-translation modifications in single cells.

In this Journal Club, Ambroise Wonkam describes how whole-exome sequencing of genetically diverse populations of African ancestry can provide insights into both complex and Mendelian disease.

A metagenomic approach to identifying the sources of N⁶-methyldeoxyadenine (6mA) in eukaryotic DNA found no evidence of high 6mA abundances in sampled eukaryotes.