Personal Genome Assembly

filed under: science

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.

DISCOVAR de novo can assemble multiple-samples together, such as a familial trio or a tumor-normal pair. This allows the assembly to conveniently depict differences between samples, even for events that are not alignable to a reference.

We believe that DISCOVAR de novo does more with short-read data than has been achieved thus far, but we acknowledge that short-read data has its limitations. The second part of my talk will highlight recent work with a powerful new datatype being unveiled at this year’s conference.

Free free to email me (see below) if you’d like to talk in person, otherwise I hope you’ll make my talk at 7:30 p.m. on Thursday in the Bioinformatics parallel session.