The researchers said that a faster method could avoid having to freeze embryos and as a result may improve the success rate of in vitro fertilization.
Complex SVs played a role in four of 1,300 Mendelian disease cases analyzed, of which nanopore sequencing helped to resolve one.
The company will use the funding to build a manufacturing facility, expand commercialization efforts, and develop new products.
Most customers are still in the very early stages of testing the device but said that data yield per flow cell has been continually increasing to nearly 100 gigabases.
At AGBT, researchers reported on progress made in generating megabase-long reads on the MinIon, as well as initial work doing direct RNA sequencing.
Clive Brown, the company's chief technology officer, provided an update on the firm's business and talked about new products and planned improvements.
Researchers have used a portable nanopore sequencer to sequence and assemble a human reference genome.
The researchers plan to develop a clinical test to monitor CML patients in remission for the BCR-ABL1 rearrangement.
The researchers are working to develop portable sequencing solutions for outbreak surveillance and infectious disease diagnostics.
The researchers established the suitability of FraC nanopores for protein analysis and offered a new approach to driving proteins into nanopores for detection.
In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.
An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.
In recent weeks, the direct-to-consumer genetics firm has rolled out a health hub where customers can share information concerning 18 common health conditions.
In PLOS this week, new genes associated with prostate cancer risk, genetic patterns in M. bovis, and more.