The Vertebrate Genomes Project, part of the Genome 10K Community of Scientists, today announced their flagship study and associated publications focused on genome assembly quality and standardization for the field of genomics. Researchers at the National Human Genome Research Institute (NHGRI) led the informatics component of the studies. The team organized and assembled sequencing data into the eventual diploid genomes of organisms such as the echidna and the platypus.
With the publication of 16 high quality reference genomes from across vertebrates, the project establishes standards for the new era of biodiversity genomics, and demonstrates how these enable comparative biology, conservation and health research.
Numerous technological improvements have been made to improve genome assemblies, especially for reference human genomes. As a result, researchers can now use advanced methods such as better long-read sequencing to achieve high-quality near-complete genomes for the nearly 71,000 living vertebrates.
The papers set the stage for making extensive strides in comparative genomics, with implications for how to address fundamental questions in human biology and disease. These projects are in line with the larger goal of using comparative genomic datasets to improve our understanding of genome function, as laid out by the NHGRI Strategic Vision.
NHGRI researchers available for media interviews:
Arang Rhie, Ph.D., is a postdoctoral fellow in the Genome Informatics Section at NHGRI and first author of the flagship paper in Nature.
Adam Phillippy, Ph.D., is chair of the Vertebrate Genome Project’s genome assembly and informatics working group, and head of the Genome Informatics Section at NHGRI.