Explore a de novo human assembly online now

Want a sneak preview of what we’ve been working on lately? Then check out this online demo that lets you explore a de novo human assembly produced by our new assembler DISCOVAR de novo.

Developed over the past 6 months, the new DISCOVAR de novo algorithm will be released later this summer. Unlike DISCOVAR, it can assemble large genomes de novo. It is also much faster, but still takes the same low-cost single-library input data that DISCOVAR does.

Whilst we prepare DISCOVAR de novo for release, take a look at the online demo we’ve set up. Here you can explore and visualize an assembly of the human cell line NA12878. You can enter any coordinates on the human reference sequence GRCh38, and the demo will show you the part of the assembly that aligns there. Using this tool, large structural variation events can be directly visualized, and simple SNPs appear as short bubbles.

Please check it out and let us know what you think via the forum.