de novo sequencing
The single-molecule sequencing firm is skipping a beta testing program for its new sequencer, which should be available by the end of the year.
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.
The firm, Universal Sequencing Technology, recently launched a library prep kit to get long-range information from short reads and is working on a long-read sequencing platform.
At ASHG, researchers showed why they're moving away from limited, linear human reference genome representations and towards a more inclusive future.
Jean-Laurent Casanova aims to identify single-gene mutations that compromise the immunity of normally healthy individuals and lead to severe infectious disease.