New Technique for Sequencing Complete Genomes for Less Than $10,000

A group of scientists from Rice University, Baylor College of Medicine, Texas Children’s Hospital, and Broad Institute of MIT and Harvard have assembled the complete genomic sequence of the Aedes aegypti mosquito at a cost of less than $10,000.

An artistic interpretation of piecing small strands of information together to create the larger scaffolding of the mosquito. Inspired by works of Ernst Haeckel and photography of Scott Camazine. Credit: Marie Hoeger

This is the first complete sequence of the genome of a mosquito responsible for spreading Zika, yellow fever, dengue, and other nasty diseases, and so will help scientists battle these killers. What’s at least as important is the impressively low cost for such an achievement that only a few years ago would have cost billions of dollars. Since the new sequence assembly technique applies to any organism, including humans and pathogens that afflict them, this is a big step for more practical and comprehensive scientific and clinical use of genomic information.

Relatively inexpensive sequencers have become common in the last few years, but they process short strings that are only a few hundred base pairs each. The hard work of assembling millions of these strings into a complete end-to-end sequence is a separate job involving powerful computers, lots of drudgery, and the money to pay for it all. That’s why the vast majority of organisms are yet to be fully sequenced.

The new technique relies on using the new sequencers to produce short strings, but then also studying how the chromosomes of the organism being sequenced fold within the cell nucleus. As with proteins, the folding is influenced by the atomic structure of the molecule. Predicting how two short strings would fold when stuck to each other and finding the same configuration within a chromosome indicates where those strings are present. While some of the same researchers developed the method for evaluating the folding of chromosomes, it took a few years to figure out its amazing new application.

Here are the scientists responsible for the new technology describing how it works:

Study in Science: De novo assembly of the Aedes aegypti genome using Hi-C yields chromosome-length scaffolds…

Via: Rice…