The study used a variety of sequencing and mapping technologies, including from Illumina, Pacific Biosciences, 10X Genomics, Bionano Genomics, and Oxford Nanopore.
The company also entered into two separate financing agreements totaling $41.5 million with Innovatus Life Sciences Lending Fund, East West Bank, and Aspire Capital.
A team led by researchers at the University of California, San Francisco generated optical genome maps for 154 individuals from more than two dozen populations.
Several groups are comparing Bionano with standard cytogenetic assays like karyotyping, FISH, or array CGH for blood cancer or genetic disease testing.
Circulomics, Bionano, Sage Science, RevoluGen, and others have been developing methods for extracting DNA hundreds of kilobases and up to megabases in length.
With long-read sequencing, mapping, and other approaches, researchers assembled a high-quality genome for Aedes aegypti, a notorious infectious disease vector.
Users expressed concern that Illumina would have an even tighter grip on the sequencing market but are optimistic that it would spur development of PacBio's technology.
In PNAS this week: links between lung adenocarcinoma and lncRNA, algorithm to impute and cluster Hi-C interaction profiles from single cells, and more.
