Consortium announces progress in augmenting the human reference genome sequence

March 7, 2013

Roche has announced that a consortium consisting of researchers from Penn State University, the National Center for Biotechnology Information, Children’s Hospital Oakland Research Institute, and Roche 454 Life Sciences is working on a comprehensive de novo assembly of a human genome to augment and supplement the current human reference genome sequence. The team presented its latest results at the recent Advances in Genome Biology and Technology (AGBT) congress.

Under the leadership of Stephan Schuster, PhD, Penn State University, the consortium is analyzing and assembling the RP11 human reference genome as part of new efforts to close gaps in the human reference assembly using Roche’s 454 GS FLX+ Sequencer. To date, the draft assembly covers a significant number of the remaining human reference sequence gaps and has revealed 36 million bases of novel sequence, including novel genes with potential biological relevance.

This new de novo assembly is quickly becoming the most complete Human Reference Genome using next-generation sequencing technology. The size and contiguity of the new assembly matches that of previous Sanger-based assemblies, including the J. Craig Venter genome (HuRef) published in 2007. In total, the latest draft assembly fully spans 76 remaining gaps and extends into 13 additional repeat regions, as well as revealing a total of 36 million bases of novel genomic sequences.

“I am pleased with the overall progress of the project and the high quality of the assembly even at this early stage,” says Schuster. “The 454 Sequencing technology has proven to sequence entire human genomes with even coverage, and the long reads enable Sanger-like sequencing of reference genomes.” Learn more about Roche 454 Life Sciences.

Photo 103483727 © Splank |
Photo 167576138 © calypsoArt |
Photo 11175251 © Alexey Rodionov |