P1033
Improving Genomes Using Long Reads and PBJelly 2

Date: Monday, January 13, 2014
Room: Grand Exhibit Hall
Kim C. Worley , Baylor College of Medicine, Houston, TX
Adam C. English , Baylor College of Medicine, Houston, TX
Stephen Richards , Baylor College of Medicine, Houston, TX
Jeffrey Ross-Ibarra , Baylor College of Medicine, Houston, TX
Yi Han , Baylor College of Medicine, Houston, TX
Daniel Hughes , Baylor College of Medicine, Houston, TX
David Rio Deiros , Baylor College of Medicine, Houston, TX
Vanessa Vee , Baylor College of Medicine, Houston, TX
Min Wang , Baylor College of Medicine, Houston, TX
Eric Boerwinkle , University of Texas Health Science Center, Houston, TX
Donna M. Muzny , Baylor College of Medicine, Houston, TX
Jeffrey G. Reid , Baylor College of Medicine, Houston, TX
Richard A. Gibbs , Baylor College of Medicine, Houston, TX
High quality reference genome sequences are the foundation of genetic analyses.  The thousands of gaps remaining in even “high quality” draft genome sequences adversely impact the assessment of genes and other functional elements.  With the long reads provided by Pacific Bioscience’s PacBios RS technology and our first generation PBJelly software we upgraded several draft genomes, including new de novo genomes assembled with Illumina short read data, Roche 454 and Sanger sequences.  Our latest PBJelly 2 software leverages the current SMRT analysis pipeline and adds scaffolding to fill inter-scaffold gaps as well as the intra-scaffold gaps addressed by PBJelly 1.  Other improvements increased the accuracy of the gap-filling sequence.   Our results applying the PBJelly 2 to existing data sets as well as to even longer read sets produced with the latest Pacific Biosciences sequencing polymerase and chemistry will be presented.