At PAG, researchers from the Rockefeller University Vertebrate Genome Laboratory outlined sequencing and assembly strategies for phase 1 of the VGP G10K.
As long-read sequencing and genome mapping technologies improve, researchers have begun using them in the clinic to identify once undetectable structural variants.
The technology could analyze, in one assay, all structural variants known to be diagnostic and prognostic for blood cancers, potentially replacing serial FISH testing.
The Brown University spinout plans to market its instrument, Nabsys HD-Mapping, for genome mapping, de novo assembly, and structural variant detection.
The researchers noted that 93 of the newly identified loci are found in both African-American and European populations, and only 18 are European-specific.
The team's assembly represents 95 percent of the genomic sequence of barley, the most complete version of that genome to date.
An Australian team has sequenced and mapped the genome of a prostate cancer tumor, as the Australian Financial Review reports.
At AGBT, an early adopter of Bionano's technology discussed how his lab is using it in conjunction with NGS to diagnose rare diseases.
The company's Irys genome mapping technology provides researchers with a non-sequencing-based tool that is essential for studying structural variation.
The public-private consortium, led by the National Institute of Standards and Technology, recently released four new reference materials.
The New York City medical examiner is overseeing an effort to identify missing persons using DNA, according to the Associated Press.
Nobel laureate Günter Blobel has died at 81, the New York Times reports.
In PNAS this week: mouse model of genetically induced emphysema, gene expression signatures of circulating melanoma cells, and more.
Technology Review reports that 2017 was the year of consumer genetic testing and that it could spur new analysis companies.