Nanopore Digest: 22nd August 2019
Thu 22nd August 2019
Welcome to the Oxford Nanopore digest - a regular newsletter of updates from the nanopore community. You'll be able to find links to recent publications, presentations and other news. If you'd like to get the digest in your inbox please let us know.
Telomere-to-telomere assembly of a complete human X chromosome
Miga et al. describe the first complete assembly of a human chromosome (the X chromosome) and the most continuous human genome assembly to date. The team sequenced the CHM13 haploid genome, generating a final extended assembly of 2.94 Gbp in 590 contigs, with a median consensus accuracy of >99.99%. The manually finished X chromosome assembly resolved 29 reference gaps and was “complete, gapless, and estimated to be at least 99.99% accurate”. With nanopore native DNA sequencing, X chromosome methylation could also be directly profiled, including over repetitive regions that are challenging to resolve with short sequencing reads. The authors state that “in terms of continuity, completeness, and correctness, our CHM13 assembly exceeds all prior human de novo assemblies”.
Nanopore Community Meeting limited offer
For a limited time only, you can get a ticket for the 2019 Nanopore Community Meeting in New York at the reduced price of $650. We're delighted to have Steven Salzberg, Shruti Iyer, Andrew Beggs and Sissel Juul confirmed to speak, if you'd like to join the line-up, submit your abstract here.
Ongoing discussions and questions in the Nanopore Community
Join the conversation and share your experiences.
Introducing the new GridION Mk1 with enhanced compute and increased stability, providing a boost in GridION X5 performance at no additional cost.