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01-29-2024

Genome mapping completed for dozens of common animals

Researchers have successfully mapped the genomes of 51 diverse animals species, including cats, dolphins, kangaroos, penguins, sharks, and turtles.

This significant achievement, spearheaded by a team from Johns Hopkins University, marks a pivotal moment in our understanding of evolution and the intricate genetic ties that bind humans to the animal kingdom.

Understanding human health and evolution

Michael Schatz, the lead author of the study and a Bloomberg Distinguished Professor of computer science and biology at Johns Hopkins University, emphasizes the monumental impact of this discovery.

“Being able to access that genetic information will have huge implications for understanding human health and evolution,” said Schatz.

“A lot of work on drug compounds starts in mice and other animal models, so understanding their genomes and the genomes of other animals directly benefits us.”

The research was conducted in collaboration with the Vertebrate Genomes Project. The team focused on sequencing the genomes of 51 animal species, prioritizing those with significant relevance to human evolutionary studies.

They overcame previous technological constraints by developing innovative algorithms and software, remarkably reducing genome sequencing time from months or even decades to mere days.

DNA connections through animal genome mapping

The study highlights an intriguing fact: mammals, which encompass primates, dogs, cats, mice, and humans, share between 50% to 99% of identical DNA.

This shared genetic heritage traces back to a common ancestor who lived approximately 200 million years ago.

By comparing complete genomes of these species, researchers are beginning to pinpoint when and where DNA sequences diverged, offering vital insights into human genetics.

However, the limited number and quality of available vertebrate genomes had previously restricted such comparative studies.

Mapping animal genomes, which are billions of characters long, is no small feat. Traditional gene sequencing technologies faltered, akin to attempting a massive jigsaw puzzle where only blue sky pieces remain.

“Have you ever done a massive jigsaw puzzle where at some point all that’s left is blue sky, and you don’t think you’ll ever be able to fit the right pieces together? The old software would basically give up on these hard parts of the genome. That’s the problem with genome assembly,” Schatz said.

“Our new program, using the latest sequencing data and the latest assembly algorithms, knows how to work through those parts to get a more complete picture.”

Democratizing genome assembly

The team tested their technology by mapping the genome of the zebra finch, a bird previously sequenced for brain development research.

The new technology proved vastly superior in reassembling genome segments, creating a more accurate and complete genetic map.

In a significant move towards open science, the team has made their software freely available online via Galaxy, a web-based platform.

Based at Johns Hopkins and Penn State, Galaxy supports over half a million scientists and educators globally, offering scientific software at no cost.

“In the past, only a handful of elite research groups would have had access to the resources needed to assemble these genomes. Now, anyone on the planet with access to the internet can visit the website and, with a few clicks of the button, run multiple scientific tools,” said Alex Ostrovsky, a Johns Hopkins software engineer on the Galaxy team who was responsible for making the tools easy to use for noncoders.

Implications and next steps for animal genome mapping

The team, in continued collaboration with the Vertebrate Genomes Project, aims to sequence the genomes of at least one species from all 275 vertebrate orders.

Schatz likens this endeavor to constructing an “evolutionary time machine.” This ambitious project will trace vertebrate evolution, shedding light on genes and sequences unique to humans.

“In some ways, we’re building an evolutionary time machine,” Schatz said. “We can trace how vertebrates evolved over time and eventually gave rise to genes and sequences that are uniquely found in humans. Having the genes of our evolutionary cousins mapped out will help us better understand ourselves.”

In summary, this groundbreaking research by Michael Schatz and his team marks a significant advancement in the field of genomics, fundamentally transforming our understanding of the evolutionary connections between humans and other vertebrates.

By mapping the genomes of 51 diverse animal species and making their innovative software publicly accessible via the Galaxy platform, the team has democratized the process of genome assembly, empowering researchers across the globe.

Their work offers unprecedented insights into our genetic heritage and sets the stage for future scientific discoveries that could have profound implications for medicine, biology, and our comprehension of life’s intricate web on Earth.

The full study was published in the journal Nature Biotechnology.

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