Direct determination of diploid genome sequences

Our paper describing Supernova, the 10x whole-genome de novo assembler, is now available on-line (for free, thankfully) at Genome Research. Supernova is unique in that it focuses on the generation of diploid assemblies and is entirely turn-key. With proper input data, we generate assemblies that are complete, contiguous, accurate, and phased. As part of the validation of this paper, we assembled seven genomes that are now available in GenBank. Feel free to email or say hi on Twitter if you have questions.

more...

AGBT 2016

So I will not be attending AGBT this year, however I’ve spent the past 8 months working with David Jaffe on a new assembler for 10X Genomics. David will be presenting this work in a talk entitled

more...

Personal Genome Assembly

I’ll be talking at AGBT2015 about ``Personal Genome Assembly.’’ This talk discusses how our group’s new version of DISCOVAR, called DISCOVAR de novo, can be used to generate a whole-genome assembly of very high quality, for about $10k in sequencing and compute costs, all in.

more...

Comprehensive variation discovery in single human genomes

Our group has a new paper out (advance publication) at Nature Genetics called “Comprehensive variation discovery in single human genomes.” This paper was the result of a ton of effort, of which mine is only a part, and describes the earlier of our group’s two versions of the DISCOVAR genome assembly algorithm.

more...

Redirecting Page Requests on S3

The purpose of this blog is really just a place for me to jot down things that I’ve done, especially when other people might benefit from the information. While I’m not really interested in driving traffic to the site, I do use Google Analytics to check out what interests people and how they end up at my blog.

more...