New 3D Method of De Novo Genome Assembly Demonstrated; Sequencing of Aedes aegypti Mosquito Genome Used As Proof of Principle for Significantly Faster and Cheaper Method

A team spanning Baylor College of Medicine, Rice University, Texas Children's Hospital, and the Broad Institute of MIT and Harvard has developed a new way to sequence genomes, which can assemble the genome of an organism, entirely from scratch, dramatically cheaper and faster. While there is much excitement about the so-called "$1000 genome" in medicine, when a doctor orders the DNA sequence of a patient, the test merely compares fragments of DNA from the patient to a reference genome. The task of generating a reference genome from scratch is an entirely different matter; for instance, the original human genome project took 10 years and cost $4 billion. The ability to quickly and easily generate a reference genome from scratch would open the door to creating reference genomes for everything from patients to tumors to all species on earth. In an article published online on March 23, 2017 in Science, the multi-institutional team reports a method -- called 3D genome assembly -- that can create a human reference genome, entirely from scratch, for less than $10,000. The article is titled “De novo Assembly of the Aedes aegypti Genome Using Hi-C Yields Chromosome-Length Scaffolds.” To illustrate the power of 3D genome assembly, the researchers have assembled the 1.2 billion letter genome of the Aedes aegypti mosquito, which carries the Zika virus, producing the first end-to-end assembly of each of its three chromosomes. The new genome will enable scientists to better combat the Zika outbreak by identifying vulnerabilities in the mosquito that the virus uses to spread. The human genome is a sequence of 6 billion chemical letters, called base-pairs, divided up among 23 pairs of chromosomes.
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