Using ultra-long read and other sequence data, researchers came up with a de novo X chromosome assembly that covers parts of the sex chromosome missed in the past.
With the help of Bionano Genomics, Genoox, Rescale, and Amazon, the investigators aim to study 1,000 patients with SARS-CoV-2 to better understand the disease.
Illumina is contributing reagents for 100 genomes worth of short-read sequence data to help scientists generate 100 new high-quality reference genomes.
In Nature this week: circular consensus sequencing method to sequence and assemble a human genome, a new CRISPR platform using the Cpf1 endonuclease, and more.
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.
Three long-read assemblies — two from PacBio data alone and one from Oxford Nanopore and Illumina data — had considerably more indel errors in genes than short-read assemblies.
In PNAS this week: similar muscle protein patterns across hypertrophic cardiomyopathy phenotypes, analysis of gene expression and brain anatomy in major depression, and more.
