In just a few minutes, scientists can assemble a complete genome with a personal computer

In just a few minutes, scientists can assemble a complete genome with a personal computer

In just a few minutes, a scientist can assemble a complete genome with a personal computer.

Scientists at the Massachusetts Institute of Technology in the United States and the Pasteur Institute in France have developed a technology to reconstruct the entire genome (including the human genome) on a personal computer
.

This technique is 100 times faster than current state-of-the-art methods and uses only 1/5 of the resources

On September 14, related research was published in Cell Systems , a journal under Cell Press
.

This technology makes the expression of genomic data more compact, and is inspired by words rather than letters that provide condensed building blocks for language models

Cell Systems

"We can quickly assemble entire genomes and metagenomics, including microbial genomes, on an ordinary laptop computer
.

" said Bonnie Berger, professor of the MIT Computer Science and Artificial Intelligence Laboratory and the author of the paper.

Since the Human Genome Project, great progress has been made in the field of genome assembly
.

After more than 10 years of international cooperation, in 2003, the Human Genome Project completed the first complete assembly of the human genome at a cost of approximately US$2.

Although the current human genome assembly project no longer takes several years, it still requires several days and huge computer power
.

The researchers said that the third-generation sequencing technology provides tens of thousands of base pairs of megabytes of high-quality genome sequence, but using such a large amount of data for genome assembly is challenging

The current technology involves pairing comparisons of all possible readings.
In order to achieve genome assembly more efficiently than current technologies, Bruijn and colleagues turned their attention to language models
.

Starting from the concept of de Bruijn graph (a simple and efficient data structure for genome assembly), the researchers developed a minimally spatialized de Bruin graph (mdBG), which uses short sequences of nucleotides instead of individual Nucleotides

Bruijn said: "Our mdBG only stores a small part of the total nucleotides while preserving the entire genome structure, which makes them orders of magnitude more efficient than the classic de Bruijn diagram
.

"

The researchers used this method to collect high-fidelity data (almost perfect single-molecule reading accuracy) of Drosophila melanogaster, as well as human genome data provided by Pacific Biosciences
.

When they evaluated the resulting genome, they found that compared with other genome assemblers, mdBG-based software required only 1/33 of the time and 1/8 of the random access memory

Next, the researchers established an index containing 661,406 bacterial genomes, which is by far the largest index of its kind
.
They found that this new technology can search for all drug resistance genes within 13 minutes, while using standard sequence alignment requires 7 hours
.

Berger said: "We know that the technology is effective, but we don't know that after further optimizing the code, it can scale so well on real data
.
"

Rayan Chikhi, a researcher at the Pasteur Institute and one of the participants in the study, said: "The new technology does not require some usually expensive pre-processing steps, such as the error correction required by most genome assembly methods
.
"

"We can also process sequencing data with an error rate of up to 4%
.
" Berger added, "As the price of long-read sequencers with different error rates drops rapidly, this capability opens the door to the popularization of sequencing data analysis
.
"

Berger pointed out that although the method currently performs best when processing Pacific Biosciences high-fidelity readings (the error rate is much lower than 1%), it may soon be compatible with the ultra-long readings of Oxford nanopores.
The error rate of nanopores is 5%~12%, but it can reach 4% soon
.

Berger said: "We hope to help scientists establish rapid genome testing sites, beyond PCR and marker arrays that may overlook important differences between genomes
.
" (Source: Tang Yichen, Science Network)

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