de novo assembly
Human Pangenome Reference Consortium Releases Data From 30 Genomes
At AGBT, UCSC's Karen Miga provided updates on the human pangenome reference project and the telomere-to-telomere consortium's genome assembly work.
The methods, both published in Nature Biotechnology this week, result in completely phased haplotypes, without the need for sequencing parental samples.
Telomere-to-Telomere Team Shares Complete X Chromosome Assembly
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.
The public-private partnership has published a paper on a list of indels larger than 50 bp that is already being used to develop new methods.
German Researchers Launch Study to Identify Genomic Variants Affecting COVID-19 Disease Response
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.