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The methods, both published in Nature Biotechnology this week, result in completely phased haplotypes, without the need for sequencing parental samples.
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.
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.
At ASHG, researchers showed why they're moving away from limited, linear human reference genome representations and towards a more inclusive future.
Illumina is contributing reagents for 100 genomes worth of short-read sequence data to help scientists generate 100 new high-quality reference genomes.
Two BioRxiv preprints describe new algorithms that the developers say can accelerate the pace of genome analysis.
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.
Reuters reports that Germany is seeking to sequence 5 percent of patient samples that test positive for SARS-CoV-2.
The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.
23andMe and Medscape say primary care physicians are increasingly more comfortable with discussing direct-to-consumer genetic testing results.
In Science this week: analysis of genome-wide association studies of chronic kidney disease, and more.